| geneid | 54535 |
|---|---|
| ensemblid | ENSG00000204536.15 |
| hgncid | 13930 |
| symbol | CCHCR1 |
| name | coiled-coil alpha-helical rod protein 1 |
| refseq_nuc | NM_001105564.2 |
| refseq_prot | NP_001099034.1 |
| ensembl_nuc | ENST00000396268.8 |
| ensembl_prot | ENSP00000379566.3 |
| mane_status | MANE Select |
| chr | chr6 |
| start | 31142439 |
| end | 31157802 |
| strand | - |
| ver | v1.2 |
| region | chr6:31142439-31157802 |
| region5000 | chr6:31137439-31162802 |
| regionname0 | CCHCR1_chr6_31142439_31157802 |
| regionname5000 | CCHCR1_chr6_31137439_31162802 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:31142614
|
G | C | 0.1319 | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(57): Show |
a0001a0007 | a0001c0006a0001c0015a0001c0017others(8): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001others(9): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(28): Show | 60 | 455 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 18/18 | c.2594C>G | p.Ser865Cys | 2796/2971 | 2594/2616 | 865/871 | ||
|
chr6:31144960
|
C | A | 0.0813 | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(34): Show |
a0001 | a0001c0006a0001c0015a0001c0017others(1): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001others(1): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(15): Show | 37 | 455 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 14/18 | c.1990G>T | p.Gly664Cys | 2192/2971 | 1990/2616 | 664/871 | ||
|
chr6:31145181
|
G | A | 0.0022 | missense_variant | MODERATE | HG03139.hp2 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0125 | 1 | 455 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 13/18 | c.1861C>T | p.Arg621Trp | 2063/2971 | 1861/2616 | 621/871 | ||
|
chr6:31148468
|
C | T | 0.0286 | missense_variant | MODERATE | HG00323.hp1 HG00741.hp2 HG01081.hp2 others(10): Show |
a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0021a0001c0011t0001g0031a0001c0011t0001g0111others(3): Show | 13 | 455 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 10/18 | c.1517G>A | p.Arg506Gln | 1719/2971 | 1517/2616 | 506/871 | ||
|
chr6:31148469
|
G | A | 0.3319 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
a0001a0003a0005others(2): Show | a0001c0006a0001c0009a0001c0015others(13): Show | a0001c0006t0001a0001c0009t0004a0001c0009t0005others(16): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(73): Show | 151 | 455 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 10/18 | c.1516C>T | p.Arg506Trp | 1718/2971 | 1516/2616 | 506/871 | ||
|
chr6:31148725
|
C | T | 0.0528 | missense_variant | MODERATE | HG00099.hp1 HG00280.hp2 HG00621.hp2 others(21): Show |
a0001a0007 | a0001c0009a0007c0024 | a0001c0009t0004a0001c0009t0005a0007c0024t0003 | a0001c0009t0004g0020a0001c0009t0004g0059a0001c0009t0004g0060others(13): Show | 24 | 455 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 9/18 | c.1366G>A | p.Ala456Thr | 1568/2971 | 1366/2616 | 456/871 | ||
|
chr6:31150734
|
T | G | 0.2879 | missense_variant | MODERATE | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(128): Show |
a0001a0007 | a0001c0001a0001c0009a0001c0019others(2): Show | a0001c0001t0001a0001c0009t0004a0001c0009t0005others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(43): Show | 131 | 455 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 6/18 | c.1092A>C | p.Glu364Asp | 1294/2971 | 1092/2616 | 364/871 | ||
|
chr6:31154538
|
G | C | 0.3648 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(163): Show |
a0001 | a0001c0001a0001c0006a0001c0009others(5): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(59): Show | 166 | 455 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 4/18 | c.759C>G | p.Ser253Arg | 961/2971 | 759/2616 | 253/871 | ||
|
chr6:31154630
|
G | A | 0.0044 | missense_variant | MODERATE | HG03453.hp2 HG03540.hp1 |
a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0131a0001c0019t0001g0137 | 2 | 455 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 4/18 | c.667C>T | p.Arg223Trp | 869/2971 | 667/2616 | 223/871 | ||
|
chr6:31154705
|
G | A | 0.0703 | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(29): Show |
a0001 | a0001c0006a0001c0017a0001c0027 | a0001c0006t0001a0001c0017t0001a0001c0027t0001 | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(13): Show | 32 | 455 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 4/18 | c.592C>T | p.Arg198Trp | 794/2971 | 592/2616 | 198/871 | ||
|
chr6:31154723
|
G | A | 0.0681 | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(28): Show |
a0001 | a0001c0006a0001c0017 | a0001c0006t0001a0001c0017t0001 | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(12): Show | 31 | 455 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 4/18 | c.574C>T | p.Arg192Trp | 776/2971 | 574/2616 | 192/871 | ||
|
chr6:31154725
|
C | T | 0.0967 | missense_variant | MODERATE | HG01099.hp2 HG01175.hp2 HG01433.hp2 others(41): Show |
a0001a0004a0014 | a0001c0014a0004c0008a0004c0012others(1): Show | a0001c0014t0001a0004c0008t0002a0004c0012t0002others(1): Show | a0001c0014t0001g0013a0004c0008t0002g0003a0004c0008t0002g0070others(10): Show | 44 | 455 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 4/18 | c.572G>A | p.Arg191Gln | 774/2971 | 572/2616 | 191/871 | ||
|
chr6:31157072
|
C | T | 0.4110 | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(184): Show |
a0001 | a0001c0001a0001c0006a0001c0009others(8): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(67): Show | 187 | 455 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 2/18 | c.234G>A | p.Trp78* | 436/2971 | 234/2616 | 78/871 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:31143403
|
T | C | 0.7011 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(316): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0009others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(120): Show | 319 | 455 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 16/18 | c.2178A>G | p.Leu726Leu | 2380/2971 | 2178/2616 | 726/871 | ||
|
chr6:31145253
|
A | G | 0.8418 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(380): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0001c0009others(26): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(147): Show | 383 | 455 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 13/18 | c.1789T>C | p.Leu597Leu | 1991/2971 | 1789/2616 | 597/871 | ||
|
chr6:31145275
|
G | A | 0.5824 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(262): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0006a0001c0009others(17): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(97): Show | 265 | 455 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 13/18 | c.1767C>T | p.Asp589Asp | 1969/2971 | 1767/2616 | 589/871 | ||
|
chr6:31148433
|
G | A | 0.1209 | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(52): Show |
a0001a0007 | a0001c0006a0001c0015a0001c0027others(6): Show | a0001c0006t0001a0001c0015t0001a0001c0027t0001others(7): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(24): Show | 55 | 455 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 10/18 | c.1552C>T | p.Leu518Leu | 1754/2971 | 1552/2616 | 518/871 | ||
|
chr6:31150788
|
C | G | 0.6747 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0009others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(120): Show | 307 | 455 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 6/18 | c.1038G>C | p.Val346Val | 1240/2971 | 1038/2616 | 346/871 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:31157792
|
T | G | 0.6110 | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0006a0001c0009others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(110): Show | 278 | 455 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 1/18 | c.-192A>C | 192 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:31143848
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(380): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0001c0009others(26): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(147): Show | 383 | 455 | 0.8418 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 15/17 | c.2168-435A>G | ||||||
|
chr6:31143898
|
C | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(187): Show |
a0001a0002a0003others(4): Show | a0001c0006a0001c0015a0001c0017others(14): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001others(16): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(76): Show | 190 | 455 | 0.4176 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 15/17 | c.2168-485G>T | ||||||
|
chr6:31144298
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(185): Show |
a0001a0002a0003others(4): Show | a0001c0006a0001c0015a0001c0017others(13): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001others(15): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(74): Show | 188 | 455 | 0.4132 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 15/17 | c.2167+389C>T | ||||||
|
chr6:31144331
|
G | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(55): Show |
a0001a0007 | a0001c0006a0001c0015a0001c0017others(7): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001others(8): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(26): Show | 58 | 455 | 0.1275 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 15/17 | c.2167+356C>A | ||||||
|
chr6:31144825
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(55): Show |
a0001a0007 | a0001c0006a0001c0015a0001c0017others(7): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001others(8): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(26): Show | 58 | 455 | 0.1275 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 14/17 | c.2066-37C>G | ||||||
|
chr6:31145122
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(329): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0009others(19): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(126): Show | 332 | 455 | 0.7297 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 13/17 | c.1876+44G>A | ||||||
|
chr6:31145148
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(329): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0009others(19): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(126): Show | 332 | 455 | 0.7297 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 13/17 | c.1876+18G>A | ||||||
|
chr6:31145306
|
G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(55): Show |
a0001a0007 | a0001c0006a0001c0015a0001c0017others(7): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001others(8): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(26): Show | 58 | 455 | 0.1275 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 12/17 | c.1740-4C>T | ||||||
|
chr6:31145329
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(329): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0009others(19): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(126): Show | 332 | 455 | 0.7297 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 12/17 | c.1740-27T>C | ||||||
|
chr6:31145498
|
A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show |
a0001a0002a0003others(5): Show | a0001c0006a0001c0009a0001c0014others(19): Show | a0001c0006t0001a0001c0009t0004a0001c0009t0005others(22): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(96): Show | 231 | 455 | 0.5077 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 11/17 | c.1694-5T>C | ||||||
|
chr6:31145499
|
G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show |
a0001a0002a0003others(5): Show | a0001c0006a0001c0009a0001c0014others(19): Show | a0001c0006t0001a0001c0009t0004a0001c0009t0005others(22): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(96): Show | 231 | 455 | 0.5077 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 11/17 | c.1694-6C>T | ||||||
|
chr6:31146065
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(398): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0006a0001c0009others(29): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(152): Show | 401 | 455 | 0.8813 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 10/17 | c.1581-257T>C | ||||||
|
chr6:31146163
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(55): Show |
a0001a0007 | a0001c0006a0001c0015a0001c0017others(7): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001others(8): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(26): Show | 58 | 455 | 0.1275 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 10/17 | c.1581-355A>G | ||||||
|
chr6:31146242
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(316): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0009others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(120): Show | 319 | 455 | 0.7011 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 10/17 | c.1581-434T>C | ||||||
|
chr6:31146405
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(55): Show |
a0001a0007 | a0001c0006a0001c0015a0001c0017others(7): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001others(8): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(26): Show | 58 | 455 | 0.1275 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 10/17 | c.1581-597T>C | ||||||
|
chr6:31146672
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0009others(23): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(134): Show | 353 | 455 | 0.7758 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 10/17 | c.1581-864G>A | ||||||
|
chr6:31146796
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0006a0001c0009others(15): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(102): Show | 257 | 455 | 0.5648 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 10/17 | c.1581-988C>T | ||||||
|
chr6:31146968
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(253): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0006a0001c0009others(14): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(101): Show | 256 | 455 | 0.5626 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 10/17 | c.1581-1160A>G | ||||||
|
chr6:31146985
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(380): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0001c0009others(26): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(147): Show | 383 | 455 | 0.8418 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 10/17 | c.1581-1177T>C | ||||||
|
chr6:31147078
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(34): Show |
a0001 | a0001c0006a0001c0015a0001c0017others(1): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001others(1): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(15): Show | 37 | 455 | 0.0813 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 10/17 | c.1581-1270T>G | ||||||
|
chr6:31147123
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(316): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0009others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(120): Show | 319 | 455 | 0.7011 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 10/17 | c.1580+1282T>C | ||||||
|
chr6:31147399
|
CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(34): Show |
a0001 | a0001c0006a0001c0015a0001c0017others(1): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001others(1): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(15): Show | 37 | 455 | 0.0813 | -13 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 10/17 | c.1580+993_1580+1005delTTTTTTTTTTTTT | ||||||
|
chr6:31147664
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(253): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0006a0001c0009others(14): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(101): Show | 256 | 455 | 0.5626 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 10/17 | c.1580+741A>G | ||||||
|
chr6:31147827
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(316): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0009others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(120): Show | 319 | 455 | 0.7011 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 10/17 | c.1580+578A>G | ||||||
|
chr6:31147923
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(55): Show |
a0001a0007 | a0001c0006a0001c0015a0001c0017others(7): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001others(8): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(26): Show | 58 | 455 | 0.1275 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 10/17 | c.1580+482T>C | ||||||
|
chr6:31148097
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(316): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0009others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(120): Show | 319 | 455 | 0.7011 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 10/17 | c.1580+308T>C | ||||||
|
chr6:31148365
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(55): Show |
a0001a0007 | a0001c0006a0001c0015a0001c0017others(7): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001others(8): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(26): Show | 58 | 455 | 0.1275 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 10/17 | c.1580+40C>T | ||||||
|
chr6:31148749
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(292): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0009others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(115): Show | 295 | 455 | 0.6484 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 8/17 | c.1363-21T>C | ||||||
|
chr6:31148859
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(37): Show |
a0001a0002 | a0001c0006a0001c0015a0001c0017others(2): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001others(2): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(17): Show | 40 | 455 | 0.0879 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 8/17 | c.1363-131C>T | ||||||
|
chr6:31148872
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(430): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0006a0001c0009others(31): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(167): Show | 433 | 455 | 0.9517 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 8/17 | c.1363-144A>G | ||||||
|
chr6:31148962
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(379): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0001c0009others(26): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(146): Show | 382 | 455 | 0.8396 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 8/17 | c.1363-234T>C | ||||||
|
chr6:31149126
|
T | TG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(267): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0006a0001c0009others(16): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(108): Show | 270 | 455 | 0.5934 | 1 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 8/17 | c.1363-399dupC | ||||||
|
chr6:31149151
|
CAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(55): Show |
a0001a0007 | a0001c0001a0001c0006a0001c0015others(8): Show | a0001c0001t0001a0001c0006t0001a0001c0015t0001others(9): Show | a0001c0001t0001g0122a0001c0006t0001g0014a0001c0006t0001g0018others(26): Show | 58 | 455 | 0.1275 | -2 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 8/17 | c.1363-425_1363-424delTT | ||||||
|
chr6:31149169
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0009others(19): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(109): Show | 278 | 455 | 0.6110 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 8/17 | c.1363-441T>C | ||||||
|
chr6:31149276
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0009others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(120): Show | 307 | 455 | 0.6747 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 8/17 | c.1363-548T>C | ||||||
|
chr6:31149298
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(222): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0006a0001c0009others(7): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(83): Show | 225 | 455 | 0.4945 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 8/17 | c.1363-570G>T | ||||||
|
chr6:31149411
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(55): Show |
a0001a0007 | a0001c0006a0001c0015a0001c0017others(7): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001others(8): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(26): Show | 58 | 455 | 0.1275 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 8/17 | c.1362+655G>A | ||||||
|
chr6:31149601
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0009others(23): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(134): Show | 353 | 455 | 0.7758 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 8/17 | c.1362+465T>G | ||||||
|
chr6:31149801
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(267): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0006a0001c0009others(16): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(108): Show | 270 | 455 | 0.5934 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 8/17 | c.1362+265T>C | ||||||
|
chr6:31149842
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0009others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(120): Show | 307 | 455 | 0.6747 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 8/17 | c.1362+224A>G | ||||||
|
chr6:31150242
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(55): Show |
a0001a0007 | a0001c0006a0001c0015a0001c0017others(7): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001others(8): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(26): Show | 58 | 455 | 0.1275 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 7/17 | c.1213-27A>G | ||||||
|
chr6:31151165
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(55): Show |
a0001a0007 | a0001c0006a0001c0015a0001c0017others(7): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001others(8): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(26): Show | 58 | 455 | 0.1275 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 4/17 | c.802-43A>G | ||||||
|
chr6:31151603
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(55): Show |
a0001a0007 | a0001c0006a0001c0015a0001c0017others(7): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001others(8): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(26): Show | 58 | 455 | 0.1275 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 4/17 | c.802-481C>T | ||||||
|
chr6:31152112
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0009others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(120): Show | 307 | 455 | 0.6747 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 4/17 | c.802-990A>G | ||||||
|
chr6:31152199
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0009others(17): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(119): Show | 306 | 455 | 0.6725 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 4/17 | c.802-1077A>T | ||||||
|
chr6:31152220
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0009others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(120): Show | 307 | 455 | 0.6747 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 4/17 | c.802-1098C>A | ||||||
|
chr6:31152281
|
C | CAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(55): Show |
a0001a0002a0007 | a0001c0006a0001c0015a0001c0017others(8): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001others(9): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(26): Show | 58 | 455 | 0.1275 | 2 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 4/17 | c.802-1161_802-1160dupTT | ||||||
|
chr6:31152463
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(343): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0001c0009others(24): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(135): Show | 346 | 455 | 0.7604 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 4/17 | c.802-1341A>G | ||||||
|
chr6:31152837
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0009others(17): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(119): Show | 306 | 455 | 0.6725 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 4/17 | c.801+1659G>A | ||||||
|
chr6:31153581
|
TTTTTA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(34): Show |
a0001 | a0001c0006a0001c0015a0001c0017others(1): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001others(1): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(15): Show | 37 | 455 | 0.0813 | -5 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 4/17 | c.801+910_801+914delTAAAA | ||||||
|
chr6:31153736
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0009others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(120): Show | 307 | 455 | 0.6747 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 4/17 | c.801+760G>A | ||||||
|
chr6:31154097
|
CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(246): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0006a0001c0009others(10): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(97): Show | 249 | 455 | 0.5473 | -2 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 4/17 | c.801+397_801+398delTT | ||||||
|
chr6:31154168
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(29): Show |
a0001 | a0001c0006a0001c0017a0001c0027 | a0001c0006t0001a0001c0017t0001a0001c0027t0001 | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023others(13): Show | 32 | 455 | 0.0703 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 4/17 | c.801+328T>G | ||||||
|
chr6:31154349
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(267): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0006a0001c0009others(16): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(108): Show | 270 | 455 | 0.5934 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 4/17 | c.801+147C>G | ||||||
|
chr6:31155333
|
G | A | intron_variant | MODIFIER | HG00558.hp1 HG03491.hp2 HG03834.hp2 others(3): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0023a0001c0006t0001g0121 | 6 | 455 | 0.0132 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 3/17 | c.498-534C>T | ||||||
|
chr6:31155465
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0009others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(120): Show | 307 | 455 | 0.6747 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 3/17 | c.498-666T>C | ||||||
|
chr6:31155536
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0009others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(120): Show | 307 | 455 | 0.6747 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 3/17 | c.498-737T>C | ||||||
|
chr6:31155603
|
C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(115): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0009others(9): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(11): Show | a0001c0001t0001g0022a0001c0001t0001g0165a0001c0006t0001g0018others(39): Show | 118 | 455 | 0.2593 | 13 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 3/17 | c.498-805_498-804insTTTTTTTTTTTTT | ||||||
|
chr6:31157290
|
C | CAACT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(312): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0009others(20): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(122): Show | 315 | 455 | 0.6923 | 4 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 1/17 | c.216+91_216+94dupAGTT | ||||||
|
chr6:31157381
|
C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0006a0001c0009others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(110): Show | 278 | 455 | 0.6110 | 0 | CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 1/17 | c.216+4G>A |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCHCR1 | 0/1 | a0001 | 77 | 187 | 35 | 45 | 67 | 12 | 27 | subcellular location copy fasta | chr6 | 31137439 | 31162802 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCHCR1 | 0/1 | c0006 | 2616 | 28 | 6 | 6 | 6 | 3 | 6 | copy fasta | chr6 | 31137439 | 31162802 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCHCR1 | 0/1 | t0001 | 356 | 232 | 52 | 38 | 104 | 11 | 26 | copy fasta | chr6 | 31137439 | 31162802 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| CCHCR1 | 0/1 | g0023 | 5 | 0 | 0 | 2 | 0 | 2 | chr6 | 31137439 | 31162802 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCHCR1 | 0/1 | a0001c0006 | 28 | 6 | 6 | 6 | 3 | 6 | 2616 | copy fasta | chr6 | 31137439 | 31162802 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCHCR1 | 0/1 | a0001c0006t0001 | 28 | 6 | 6 | 6 | 3 | 6 | 2971 | copy fasta | chr6 | 31137439 | 31162802 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| CCHCR1 | 0/1 | a0001c0006t0001g0023 | 5 | 0 | 0 | 2 | 0 | 2 | chr6 | 31137439 | 31162802 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 31157023 | - | 2 | -0.9690 | -0.9690 | -0.9690 | 0.0000 | acceptor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31157089 | - | 2 | 0.9568 | 0.9568 | 0.9568 | 0.0000 | donor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31156731 | - | 3 | -0.9689 | -0.9689 | -0.9689 | 0.0000 | acceptor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31156944 | - | 3 | 0.9399 | 0.9399 | 0.9399 | 0.0000 | donor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31154496 | - | 4 | -0.9219 | -0.9219 | -0.9219 | 0.0000 | acceptor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31154799 | - | 4 | 0.5774 | 0.5774 | 0.5774 | 0.0000 | donor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31150959 | - | 5 | -0.9993 | -0.9992 | -0.9993 | 0.0000 | acceptor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31151122 | - | 5 | 0.9978 | 0.9978 | 0.9978 | 0.0000 | donor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31150725 | - | 6 | -0.9896 | -0.9896 | -0.9896 | 0.0000 | acceptor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31150860 | - | 6 | 0.9873 | 0.9872 | 0.9873 | 0.0000 | donor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31150455 | - | 7 | -0.9963 | -0.9963 | -0.9963 | 0.0000 | acceptor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31150565 | - | 7 | 0.9962 | 0.9962 | 0.9962 | 0.0000 | donor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31150066 | - | 8 | -0.9870 | -0.9870 | -0.9870 | 0.0000 | acceptor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31150215 | - | 8 | 0.9924 | 0.9924 | 0.9924 | 0.0000 | donor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31148618 | - | 9 | -0.9968 | -0.9968 | -0.9968 | 0.0000 | acceptor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31148728 | - | 9 | 0.9981 | 0.9981 | 0.9981 | 0.0000 | donor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31148405 | - | 10 | -0.8592 | -0.8592 | -0.8592 | 0.0000 | acceptor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31148511 | - | 10 | 0.9249 | 0.9249 | 0.9249 | 0.0000 | donor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31145696 | - | 11 | -0.9555 | -0.9555 | -0.9555 | 0.0000 | acceptor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31145808 | - | 11 | 0.9706 | 0.9706 | 0.9706 | 0.0000 | donor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31145448 | - | 12 | -0.8606 | -0.8606 | -0.8606 | 0.0000 | acceptor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31145493 | - | 12 | 0.8134 | 0.8134 | 0.8134 | 0.0000 | donor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31145166 | - | 13 | -0.9737 | -0.9737 | -0.9737 | 0.0000 | acceptor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31145302 | - | 13 | 0.9993 | 0.9993 | 0.9993 | 0.0000 | donor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31144885 | - | 14 | -0.9936 | -0.9936 | -0.9936 | 0.0000 | acceptor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31145073 | - | 14 | 0.9989 | 0.9989 | 0.9989 | 0.0000 | donor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31144687 | - | 15 | -0.9884 | -0.9883 | -0.9884 | 0.0000 | acceptor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31144788 | - | 15 | 0.9969 | 0.9969 | 0.9969 | 0.0000 | donor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31143262 | - | 16 | -0.9645 | -0.9645 | -0.9645 | 0.0000 | acceptor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31143413 | - | 16 | 0.9903 | 0.9903 | 0.9903 | 0.0000 | donor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31142963 | - | 17 | -0.1934 | -0.1934 | -0.1934 | 0.0000 | acceptor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31143134 | - | 17 | 0.6931 | 0.6931 | 0.6931 | 0.0000 | donor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31142716 | - | 18 | 0.9655 | 0.9655 | 0.9655 | 0.0000 | donor | a0001c0006t0001g0023 | HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
HG03491.hp2 HG03834.hp2 NA19002.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1 |
CCHCR1 | chr6 | 31137439 | 31162802 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 31161839:splice 31161839:variant goto | c.-4239T>C | 1181041 | Benign | TCF19:6941 | SO:0001583 missense_variant |
MedGen:C3661900 | - | 6 | 23 | 26 | 125 | a0001a0002a0003a0005a0007others(1): Show | a0001c0001a0001c0006a0001c0009a0001c0011a0001c0014others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(120): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(310): Show |
MODIFIER | chr6 | A | G | TogoVar |
| 31144960:splice 31144960:variant goto | c.1990G>Tp.Gly664Cys | 1291637 | Benign | CCHCR1:54535 | SO:0001583 missense_variant |
MedGen:C3661900 | - | 1 | 4 | 4 | 18 | a0001 | a0001c0006a0001c0015a0001c0017a0001c0027 | a0001c0006t0001a0001c0015t0001a0001c0017t0001a0001c0027t0001 | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117a0001c0006t0001g0118others(13): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00558.hp1 HG00735.hp1 others(32): Show |
MODERATE | chr6 | C | A | TogoVar |
| 31154723:splice 31154723:variant goto | c.574C>Tp.Arg192Trp | 1242555 | Benign | CCHCR1:54535 | SO:0001583 missense_variant,SO:0001623 5_prime_UTR_variant |
MedGen:C3661900 | - | 1 | 2 | 2 | 15 | a0001 | a0001c0006a0001c0017 | a0001c0006t0001a0001c0017t0001 | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117a0001c0006t0001g0118others(10): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00558.hp1 HG00738.hp2 others(26): Show |
MODERATE | chr6 | G | A | TogoVar |
| 31154705:splice 31154705:variant goto | c.592C>Tp.Arg198Trp | 1283507 | Benign | CCHCR1:54535 | SO:0001583 missense_variant,SO:0001623 5_prime_UTR_variant |
MedGen:C3661900 | - | 1 | 3 | 3 | 16 | a0001 | a0001c0006a0001c0017a0001c0027 | a0001c0006t0001a0001c0017t0001a0001c0027t0001 | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117a0001c0006t0001g0118others(11): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00558.hp1 HG00738.hp2 others(27): Show |
MODERATE | chr6 | G | A | TogoVar |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:31138491
|
c.*4101T>C | Systemic sclerosis1.25 | a0001a0002a0003a0004a0005others(4): Show | a0001c0001a0001c0006a0001c0014a0001c0017a0001c0027others(15): Show | a0001c0001t0001a0001c0006t0001a0001c0014t0001a0001c0017t0001a0001c0027t0001others(17): Show | a0001c0001t0001g0022a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117others(47): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp1 others(119): Show |
Genome-wide scan identifies TNIP1, PSORS1C1, and R others(46): Show |
564 European ancestry cases, 1,776 European ancest others(75): Show |
PSORS1C1 | PSORS1C2, PSORS1C1 | rs3130573-G | - | MODIFIER | chr6 | A | G |
|
chr6:31150242
|
c.1213-27A>G | Nevirapine-induced rash4.36 | a0001a0007 | a0001c0006a0001c0015a0001c0017a0001c0027a0007c0013others(5): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001a0001c0027t0001a0007c0013t0003others(6): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117a0001c0006t0001g0118others(24): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00558.hp1 others(53): Show |
Genome-wide association study identifies variation others(52): Show |
72 Thai ancestry nevirapine-induced rash HIV cases others(153): Show |
CCHCR1 | CCHCR1 | rs1265112-G | - | MODIFIER | chr6 | T | C |
|
chr6:31139481
|
c.*3111A>G | Multiple myeloma1.192 | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0001c0006a0001c0009a0001c0015a0001c0017others(17): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0015t0001others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(119): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(316): Show |
Common variation at 3q26.2, 6p21.33, 17p11.2 and 2 others(40): Show |
2,335 European ancestry cases, 7,306 European ance others(77): Show |
PSORS1C1, CCHCR1, TCF19, POU5F1, CDSN | PSORS1C1 | rs2285803-A | - | MODIFIER | chr6 | T | C |
|
chr6:31148749
|
c.1363-21T>C | Multiple myeloma1.2 | a0001a0002a0003a0005a0007others(2): Show | a0001c0001a0001c0006a0001c0009a0001c0015a0001c0017others(16): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0015t0001others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(113): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(290): Show |
Genome-wide association study identifies multiple others(41): Show |
7,319 European ancestry cases, 234,385 European an others(79): Show |
NR | CCHCR1 | rs3132535-A | - | MODIFIER | chr6 | A | G |
|
chr6:31148433
|
c.1552C>Tp.Leu518Leu | Hay fever and/or eczema1.0548522 | a0001a0007 | a0001c0006a0001c0015a0001c0027a0007c0013a0007c0016others(4): Show | a0001c0006t0001a0001c0015t0001a0001c0027t0001a0007c0013t0003a0007c0013t0007others(5): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117a0001c0006t0001g0118others(22): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00558.hp1 others(50): Show |
Genome-wide association analysis of 350000 Caucasi others(79): Show |
84,034 European ancestry cases, 239,773 European a others(17): Show |
NR | CCHCR1 | rs130071-G | - | LOW | chr6 | G | A |
|
chr6:31148749
|
c.1363-21T>C | Multiple myeloma1.19 | a0001a0002a0003a0005a0007others(2): Show | a0001c0001a0001c0006a0001c0009a0001c0015a0001c0017others(16): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0015t0001others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(113): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(290): Show |
Deciphering the genetics and mechanisms of predisp others(28): Show |
10,906 European ancestry cases, 366,221 European a others(17): Show |
CCHCR1 | rs3132535-A | - | MODIFIER | chr6 | A | G | |
|
chr6:31138491
|
c.*4101T>C |
Waist-to-hip ratio adjusted for BMI0.020 others(4): Show |
a0001a0002a0003a0004a0005others(4): Show | a0001c0001a0001c0006a0001c0014a0001c0017a0001c0027others(15): Show | a0001c0001t0001a0001c0006t0001a0001c0014t0001a0001c0017t0001a0001c0027t0001others(17): Show | a0001c0001t0001g0022a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117others(47): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp1 others(119): Show |
GWAS of allometric body-shape indices in UK Bioban others(109): Show |
186,825 British ancestry men/ | PSORS1C1, PSORS1C2 | PSORS1C2, PSORS1C1 | rs3130573-G | - | MODIFIER | chr6 | A | G |
|
chr6:31138632
|
c.*3960T>C | Seropositivity for human gammaherpesvirus 4 (Epstein-Barr virus) peptide (agilent_7302)others(52): Show | a0001a0003a0004a0005a0007 | a0001c0001a0001c0006a0001c0015a0001c0017a0001c0026others(10): Show | a0001c0001t0001a0001c0006t0001a0001c0015t0001a0001c0017t0001a0001c0026t0001others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0024others(69): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp1 others(193): Show |
Phage display sequencing reveals that genetic, env others(91): Show |
1,745 individuals/ | PSORS1C1, PSORS1C2 | rs3132557-? | - | MODIFIER | chr6 | A | G | |
|
chr6:31138632
|
c.*3960T>C | Seropositivity for human gammaherpesvirus 4 (Epstein-Barr virus) peptide (twist_34377)others(51): Show | a0001a0003a0004a0005a0007 | a0001c0001a0001c0006a0001c0015a0001c0017a0001c0026others(10): Show | a0001c0001t0001a0001c0006t0001a0001c0015t0001a0001c0017t0001a0001c0026t0001others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0024others(69): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp1 others(193): Show |
Phage display sequencing reveals that genetic, env others(91): Show |
1,745 individuals/ | PSORS1C1, PSORS1C2 | rs3132557-? | - | MODIFIER | chr6 | A | G | |
|
chr6:31144298
|
c.2167+389C>T | Non-Hodgkin's lymphoma1.1785504 | a0001a0002a0003a0004a0005others(2): Show | a0001c0006a0001c0015a0001c0017a0001c0027a0002c0004others(11): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001a0001c0027t0001a0002c0004t0002others(13): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117a0001c0006t0001g0118others(72): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp1 others(183): Show |
Pan-cancer study detects genetic risk variants and others(43): Show |
2,400 European ancestry cases, 410,350 European an others(16): Show |
CCHCR1 | rs1265080-A | - | MODIFIER | chr6 | G | A | |
|
chr6:31148433
|
c.1552C>Tp.Leu518Leu | Cancer (pleiotropy)1.1198208 | a0001a0007 | a0001c0006a0001c0015a0001c0027a0007c0013a0007c0016others(4): Show | a0001c0006t0001a0001c0015t0001a0001c0027t0001a0007c0013t0003a0007c0013t0007others(5): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117a0001c0006t0001g0118others(22): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00558.hp1 others(50): Show |
Pan-cancer study detects genetic risk variants and others(43): Show |
64,962 European ancestry cases, 410,350 European a others(17): Show |
CCHCR1 | rs130071-A | - | LOW | chr6 | G | A | |
|
chr6:31148749
|
c.1363-21T>C | Type 2 diabetes1.06 | a0001a0002a0003a0005a0007others(2): Show | a0001c0001a0001c0006a0001c0009a0001c0015a0001c0017others(16): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0015t0001others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(113): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(290): Show |
Identification of 28 new susceptibility loci for t others(42): Show |
36,614 Japanese ancestry cases, 155,150 Japanese a others(17): Show |
POU5F1, TCF19 | CCHCR1 | rs115321690-G | - | MODIFIER | chr6 | A | G |
|
chr6:31138829
|
c.*3763T>A | Serum uric acid levels0.037 | a0001a0004a0006a0013a0014 | a0001c0006a0001c0011a0004c0012a0006c0007a0013c0031others(1): Show | a0001c0006t0001a0001c0011t0001a0004c0012t0002a0006c0007t0002a0013c0031t0002others(1): Show | a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0121a0001c0006t0001g0132a0001c0011t0001g0021others(22): Show | HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00558.hp1 HG00597.hp1 others(57): Show |
Genome-wide meta-analysis identifies multiple nove others(70): Show |
121,745 Japanese ancestry individuals/at least 101 others(34): Show |
PSORS1C1, PSORS1C2 | PSORS1C1, PSORS1C2 | rs16898823-A | - | MODIFIER | chr6 | A | T |
|
chr6:31137856
|
c.*4736G>A | Mouth ulcers1.0453895 | a0001a0002a0003a0004a0005others(7): Show | a0001c0001a0001c0006a0001c0009a0001c0011a0001c0014others(26): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(138): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(367): Show |
Genome wide analysis for mouth ulcers identifies a others(38): Show |
47,079 British or unknown ancestry cases, 414,027 others(67): Show |
PSORS1C2, PSORS1C1 | rs2074478-T | - | MODIFIER | chr6 | C | T | |
|
chr6:31161839
|
c.-4239T>C | Type 2 diabetes (adjusted for BMI)1.04 | a0001a0002a0003a0005a0007others(1): Show | a0001c0001a0001c0006a0001c0009a0001c0011a0001c0014others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(120): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(310): Show |
Refining the accuracy of validated target identifi others(62): Show |
up to 48,286 European ancestry cases, up to 250,67 others(29): Show |
MHC | TCF19 | rs2073721-G | - | MODIFIER | chr6 | A | G |
|
chr6:31161839
|
c.-4239T>C | Type 2 diabetes1.04 | a0001a0002a0003a0005a0007others(1): Show | a0001c0001a0001c0006a0001c0009a0001c0011a0001c0014others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(120): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(310): Show |
Refining the accuracy of validated target identifi others(62): Show |
up to 48,286 European ancestry cases, up to 250,67 others(29): Show |
MHC | TCF19 | rs2073721-G | - | MODIFIER | chr6 | A | G |
|
chr6:31161839
|
c.-4239T>C | Type 2 diabetes1.04 | a0001a0002a0003a0005a0007others(1): Show | a0001c0001a0001c0006a0001c0009a0001c0011a0001c0014others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(120): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(310): Show |
Refining the accuracy of validated target identifi others(62): Show |
48,286 European ancestry cases, 250,671 European a others(171): Show |
MHC | TCF19 | rs2073721-G | - | MODIFIER | chr6 | A | G |
|
chr6:31161839
|
c.-4239T>C | Type 2 diabetes (adjusted for BMI)1.04 | a0001a0002a0003a0005a0007others(1): Show | a0001c0001a0001c0006a0001c0009a0001c0011a0001c0014others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(120): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(310): Show |
Refining the accuracy of validated target identifi others(62): Show |
48,286 European ancestry cases, 250,671 European a others(171): Show |
MHC | TCF19 | rs2073721-G | - | MODIFIER | chr6 | A | G |
|
chr6:31142614
|
c.2594C>Gp.Ser865Cys | Psoriasis1.67 | a0001a0007 | a0001c0006a0001c0015a0001c0017a0001c0027a0007c0013others(6): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001a0001c0027t0001a0007c0013t0003others(7): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117a0001c0006t0001g0118others(26): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00558.hp1 others(55): Show |
Genome-wide association study of psoriasis in an E others(19): Show |
215 Egyptian ancestry cases, 416 Egyptian ancestry others(69): Show |
CCHCR1 | CCHCR1 | rs1576-? | - | MODERATE | chr6 | G | C |
|
chr6:31138491
|
c.*4101T>C | Waist-hip index0.0196118 | a0001a0002a0003a0004a0005others(4): Show | a0001c0001a0001c0006a0001c0014a0001c0017a0001c0027others(15): Show | a0001c0001t0001a0001c0006t0001a0001c0014t0001a0001c0017t0001a0001c0027t0001others(17): Show | a0001c0001t0001g0022a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117others(47): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp1 others(119): Show |
GWAS of allometric body-shape indices in UK Bioban others(109): Show |
186,825 British ancestry men/ | PSORS1C1, PSORS1C2 | PSORS1C2, PSORS1C1 | rs3130573-G | - | MODIFIER | chr6 | A | G |
|
chr6:31139481
|
c.*3111A>G |
Waist-to-hip ratio adjusted for BMI0.017 others(4): Show |
a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0001c0006a0001c0009a0001c0015a0001c0017others(17): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0015t0001others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(119): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(316): Show |
GWAS of allometric body-shape indices in UK Bioban others(109): Show |
219,872 British ancestry women/ | PSORS1C1 | PSORS1C1 | rs2285803-T | - | MODIFIER | chr6 | T | C |
|
chr6:31139481
|
c.*3111A>G | Multiple myeloma1.17 | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0001c0006a0001c0009a0001c0015a0001c0017others(17): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0015t0001others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(119): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(316): Show |
Germline variants at SOHLH2 influence multiple mye others(10): Show |
4,376 European ancestry cases, 345,887 European an others(80): Show |
PSORS1C2 | PSORS1C1 | rs2285803-T | - | MODIFIER | chr6 | T | C |
|
chr6:31149298
|
c.1363-570G>T |
Hip circumference adjusted for BMI0.0193 others(3): Show |
a0001a0003a0005a0007a0010 | a0001c0001a0001c0006a0001c0009a0001c0011a0001c0019others(5): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(81): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 others(220): Show |
GWAS of allometric body-shape indices in UK Bioban others(109): Show |
186,825 British ancestry men/ | CCHCR1 | CCHCR1 | rs1265115-A | - | MODIFIER | chr6 | C | A |
|
chr6:31145148
|
c.1876+18G>A | Monocyte count0.06 | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0006a0001c0009a0001c0011a0001c0015others(17): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(124): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(327): Show |
Genetic architecture of routinely acquired blood t others(37): Show |
38,000 South Asian ancestry individuals/ | CCHCR1 | rs2073719-T | - | MODIFIER | chr6 | C | T | |
|
chr6:31145253
|
c.1789T>Cp.Leu597Leu |
Sex hormone-binding globulin levels0.034 others(4): Show |
a0001a0002a0003a0004a0005others(6): Show | a0001c0001a0001c0006a0001c0009a0001c0011a0001c0014others(24): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(145): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(378): Show |
Genetic analyses implicate complex links between a others(48): Show |
163,363 British ancestry men/ | CCHCR1 | rs3132539-? | - | LOW | chr6 | A | G | |
|
chr6:31142033
|
c.*559C>T | Severe COVID-19 or systemic lupus erythematosus (MTAG)others(14): Show | a0001a0007 | a0001c0006a0001c0015a0001c0017a0001c0027a0007c0013others(6): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001a0001c0027t0001a0007c0013t0003others(7): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117a0001c0006t0001g0118others(26): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00558.hp1 others(55): Show |
Disentangling the common genetic architecture and others(173): Show |
13,769 European ancestry severe COVID-19 cases, 7, others(70): Show |
POLR2LP1 - CCHCR1 | rs1265087-? | - | MODIFIER | chr6 | G | A | |
|
chr6:31142033
|
c.*559C>T | COVID-19 hospitalization or systemic lupus erythematosus (MTAG)others(23): Show | a0001a0007 | a0001c0006a0001c0015a0001c0017a0001c0027a0007c0013others(6): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001a0001c0027t0001a0007c0013t0003others(7): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117a0001c0006t0001g0118others(26): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00558.hp1 others(55): Show |
Disentangling the common genetic architecture and others(173): Show |
32,519 European ancestry COVID-19 hospitalization others(79): Show |
POLR2LP1 - CCHCR1 | rs1265087-? | - | MODIFIER | chr6 | G | A | |
|
chr6:31138632
|
c.*3960T>C |
Primary sclerosing cholangitis (MTAG)0.1 others(7): Show |
a0001a0003a0004a0005a0007 | a0001c0001a0001c0006a0001c0015a0001c0017a0001c0026others(10): Show | a0001c0001t0001a0001c0006t0001a0001c0015t0001a0001c0017t0001a0001c0026t0001others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0024others(69): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp1 others(193): Show |
Multitrait genome-wide analyses identify new susce others(69): Show |
at least 2,871 European ancestry cases, at least 1 others(175): Show |
PSORS1C1, PSORS1C2 | rs3132557-G | - | MODIFIER | chr6 | A | G | |
|
chr6:31160775
|
c.-3175T>G | Cholesterol to total lipids ratio in chylomicrons and extremely large VLDLothers(43): Show | a0001a0002a0003a0005a0010 | a0001c0001a0001c0006a0001c0009a0001c0011a0001c0014others(11): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(107): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(287): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
111,638 European ancestry individuals/ | TCF19 | rs3130934-A | - | MODIFIER | chr6 | A | C | |
|
chr6:31160775
|
c.-3175T>G | Cholesteryl esters to total lipids ratio in chylomicrons and extremely large VLDLothers(49): Show | a0001a0002a0003a0005a0010 | a0001c0001a0001c0006a0001c0009a0001c0011a0001c0014others(11): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(107): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(287): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
111,638 European ancestry individuals/ | TCF19 | rs3130934-A | - | MODIFIER | chr6 | A | C | |
|
chr6:31145498
|
c.1694-5T>C |
Binding antibody response to interferon beta therapy in multiple sclerosis (antibody levels; IFN¦Â others(105): Show |
a0001a0002a0003a0004a0005others(3): Show | a0001c0006a0001c0009a0001c0014a0001c0015a0001c0017others(17): Show | a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0014t0001a0001c0015t0001others(20): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117a0001c0006t0001g0118others(94): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 others(226): Show |
Treatment- and population-specific genetic risk fa others(63): Show |
up to 2,000 German and Swedish ancestry individual others(51): Show |
CCHCR1 | rs886401-A | - | LOW | chr6 | A | G | |
|
chr6:31142105
|
c.*487C>A |
Binding antibody response to interferon beta therapy in multiple sclerosis (antibody levels; all tre others(90): Show |
a0001a0002a0003a0004a0005others(2): Show | a0001c0006a0001c0015a0001c0017a0001c0027a0002c0004others(12): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001a0001c0027t0001a0002c0004t0002others(14): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117a0001c0006t0001g0118others(74): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp1 others(185): Show |
Treatment- and population-specific genetic risk fa others(63): Show |
up to 2,000 German and Swedish ancestry individual others(51): Show |
POLR2LP1 - CCHCR1 | rs1265086-T | - | MODIFIER | chr6 | G | T | |
|
chr6:31139310
|
c.*3282A>G | Coronary artery disease or tissue plasminogen activator levels (pleiotropy)others(35): Show | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0001c0006a0001c0009a0001c0015a0001c0017others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0015t0001others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(120): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(318): Show |
Multi-phenotype analyses of hemostatic traits with others(57): Show |
172,122 European, South Asian or East Asian CAD ca others(118): Show |
PSORS1C1 | rs3094663-? | - | MODIFIER | chr6 | T | C | |
|
chr6:31139310
|
c.*3282A>G | Coronary artery disease or plasminogen activator inhibitor 1 levels (pleiotropy)others(40): Show | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0001c0006a0001c0009a0001c0015a0001c0017others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0015t0001others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(120): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(318): Show |
Multi-phenotype analyses of hemostatic traits with others(57): Show |
172,122 European, South Asian or East Asian CAD ca others(118): Show |
PSORS1C1 | rs3094663-? | - | MODIFIER | chr6 | T | C | |
|
chr6:31147123
|
c.1580+1282T>C | Microalbuminuria1.0380044 | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0006a0001c0009a0001c0015a0001c0017others(16): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0015t0001others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(118): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(314): Show |
Genome-wide association meta-analyses and fine-map others(48): Show |
51,861 European, African American, East Asian, Sou others(127): Show |
CCHCR1 | CCHCR1 | rs2240060-A | - | MODIFIER | chr6 | A | G |
|
chr6:31147123
|
c.1580+1282T>C |
Urinary albumin-to-creatinine ratio0.013 others(1): Show |
a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0006a0001c0009a0001c0015a0001c0017others(16): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0015t0001others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(118): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(314): Show |
Genome-wide association meta-analyses and fine-map others(48): Show |
547,361 European ancestry individuals, 6,795 Afric others(131): Show |
CCHCR1 | CCHCR1 | rs2240060-A | - | MODIFIER | chr6 | A | G |
|
chr6:31147123
|
c.1580+1282T>C |
Urinary albumin-to-creatinine ratio0.013 others(4): Show |
a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0006a0001c0009a0001c0015a0001c0017others(16): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0015t0001others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(118): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(314): Show |
Genome-wide association meta-analyses and fine-map others(48): Show |
547,361 European ancestry individuals/ | CCHCR1 | CCHCR1 | rs2240060-A | - | MODIFIER | chr6 | A | G |
|
chr6:31148962
|
c.1363-234T>C |
Preeclampsia (maternal genotype effect)1 others(3): Show |
a0001a0002a0003a0004a0005others(6): Show | a0001c0001a0001c0006a0001c0009a0001c0011a0001c0014others(24): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(144): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(377): Show |
Genetic predisposition to hypertension is associat others(57): Show |
2,296 Central Asian ancestry cases, 2,059 Central others(211): Show |
CCHCR1 | rs9263761-G | - | MODIFIER | chr6 | A | G | |
|
chr6:31143898
|
c.2168-485G>T |
Head and neck squamous cell carcinoma1.1 others(6): Show |
a0001a0002a0003a0004a0005others(2): Show | a0001c0006a0001c0015a0001c0017a0001c0027a0002c0004others(12): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001a0001c0027t0001a0002c0004t0002others(14): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117a0001c0006t0001g0118others(74): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp1 others(185): Show |
A genome-wide association study identifies two nov others(72): Show |
2,171 European ancestry cases, 4,493 European ance others(77): Show |
CCHCR1 | CCHCR1 | rs1265081-A | - | MODIFIER | chr6 | C | A |
|
chr6:31142614
|
c.2594C>Gp.Ser865Cys | Hypothyroidism or rheumatoid arthritis (pleiotropy)others(11): Show | a0001a0007 | a0001c0006a0001c0015a0001c0017a0001c0027a0007c0013others(6): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001a0001c0027t0001a0007c0013t0003others(7): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117a0001c0006t0001g0118others(26): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00558.hp1 others(55): Show |
Shared genetic architecture between hypothyroidism others(62): Show |
22,350 European ancestry rheumatoid arthritis case others(85): Show |
CCHCR1 | rs1576-? | - | MODERATE | chr6 | G | C | |
|
chr6:31154349
|
c.801+147C>G | Height0.0199 | a0001a0003a0005a0007a0010 | a0001c0001a0001c0006a0001c0009a0001c0011a0001c0015others(14): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(106): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(265): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
CCHCR1 | rs2073717-G | - | MODIFIER | chr6 | G | C | |
|
chr6:31138829
|
c.*3763T>A | Hypothyroidism or rheumatoid arthritis (pleiotropy)others(11): Show | a0001a0004a0006a0013a0014 | a0001c0006a0001c0011a0004c0012a0006c0007a0013c0031others(1): Show | a0001c0006t0001a0001c0011t0001a0004c0012t0002a0006c0007t0002a0013c0031t0002others(1): Show | a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0121a0001c0006t0001g0132a0001c0011t0001g0021others(22): Show | HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00558.hp1 HG00597.hp1 others(57): Show |
Shared genetic architecture between hypothyroidism others(62): Show |
22,350 European ancestry rheumatoid arthritis case others(85): Show |
PSORS1C1, PSORS1C2 | rs16898823-? | - | MODIFIER | chr6 | A | T | |
|
chr6:31142033
|
c.*559C>T | Myeloproliferative neoplasms (MTAG)0.008 | a0001a0007 | a0001c0006a0001c0015a0001c0017a0001c0027a0007c0013others(6): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001a0001c0027t0001a0007c0013t0003others(7): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117a0001c0006t0001g0118others(26): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00558.hp1 others(55): Show |
Shared and distinct genetic etiologies for differe others(33): Show |
at least 1,427 cases, at least 480,951 controls (M others(65): Show |
POLR2LP1 - CCHCR1 | rs1265087-? | - | MODIFIER | chr6 | G | A | |
|
chr6:31139540
|
c.*3052G>A | Prostate-specific antigen levels0.0238 | a0001a0004a0007 | a0001c0006a0001c0015a0001c0017a0001c0027a0004c0008others(7): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001a0001c0027t0001a0004c0008t0002others(8): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117a0001c0006t0001g0118others(31): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00558.hp1 others(79): Show |
Genome-wide association study of prostate-specific others(98): Show |
61,745 African ancestry individuals, 6,967 Asian a others(106): Show |
PSORS1C1 | rs1265092-T | - | MODIFIER | chr6 | C | T | |
|
chr6:31149298
|
c.1363-570G>T | Height0.0245004 | a0001a0003a0005a0007a0010 | a0001c0001a0001c0006a0001c0009a0001c0011a0001c0019others(5): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(81): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 others(220): Show |
A Genomics England haplotype reference panel and i others(24): Show |
404,900 European ancestry individuals/ | CCHCR1 | rs1265115-? | - | MODIFIER | chr6 | C | A | |
|
chr6:31139481
|
c.*3111A>G | Age-related macular degeneration or COVID-19 critical illness (MTAG)others(32): Show | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0001c0006a0001c0009a0001c0015a0001c0017others(17): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0015t0001others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(119): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(316): Show |
Genome-Wide Pleiotropy Study Identifies Associatio others(88): Show |
16,144 European ancestry AMD cases, 5,101 European others(80): Show |
PSORS1C1 | rs2285803-? | - | MODIFIER | chr6 | T | C | |
|
chr6:31140708
|
c.*1884C>T | Age-related macular degeneration or COVID-19 critical illness (MTAG)others(32): Show | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0006a0001c0009a0001c0015a0001c0017others(16): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0015t0001others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(118): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(314): Show |
Genome-Wide Pleiotropy Study Identifies Associatio others(88): Show |
16,144 European ancestry AMD cases, 5,101 European others(80): Show |
PSORS1C1 - POLR2LP1 | rs3130454-? | - | MODIFIER | chr6 | G | A | |
|
chr6:31140708
|
c.*1884C>T | Age-related macular degeneration or COVID-19 hospitalization (MTAG)others(31): Show | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0006a0001c0009a0001c0015a0001c0017others(16): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0015t0001others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(118): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(314): Show |
Genome-Wide Pleiotropy Study Identifies Associatio others(88): Show |
16,144 European ancestry AMD cases, 9,986 European others(79): Show |
PSORS1C1 - POLR2LP1 | rs3130454-? | - | MODIFIER | chr6 | G | A | |
|
chr6:31139481
|
c.*3111A>G | Age-related macular degeneration or COVID-19 hospitalization (MTAG)others(31): Show | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0001c0006a0001c0009a0001c0015a0001c0017others(17): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0015t0001others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(119): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(316): Show |
Genome-Wide Pleiotropy Study Identifies Associatio others(88): Show |
16,144 European ancestry AMD cases, 9,986 European others(79): Show |
PSORS1C1 | rs2285803-? | - | MODIFIER | chr6 | T | C | |
|
chr6:31140708
|
c.*1884C>T | Age-related macular degeneration or COVID-19 infection (MTAG)others(25): Show | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0006a0001c0009a0001c0015a0001c0017others(16): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0015t0001others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(118): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(314): Show |
Genome-Wide Pleiotropy Study Identifies Associatio others(88): Show |
16,144 European ancestry AMD cases, 38,984 Europea others(74): Show |
PSORS1C1 - POLR2LP1 | rs3130454-? | - | MODIFIER | chr6 | G | A | |
|
chr6:31139481
|
c.*3111A>G | Age-related macular degeneration or COVID-19 infection (MTAG)others(25): Show | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0001c0006a0001c0009a0001c0015a0001c0017others(17): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0015t0001others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(119): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(316): Show |
Genome-Wide Pleiotropy Study Identifies Associatio others(88): Show |
16,144 European ancestry AMD cases, 38,984 Europea others(74): Show |
PSORS1C1 | rs2285803-? | - | MODIFIER | chr6 | T | C | |
|
chr6:31148365
|
c.1580+40C>T | Takayasu arteritis2.41 | a0001a0007 | a0001c0006a0001c0015a0001c0017a0001c0027a0007c0013others(5): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001a0001c0027t0001a0007c0013t0003others(6): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117a0001c0006t0001g0118others(24): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00558.hp1 others(53): Show |
Whole Exome Sequencing Revealed Variants That Pred others(69): Show |
200 Han Chinese ancestry cases, 1,675 Han Chinese others(18): Show |
CCHCR1 | rs1265067-? | - | MODIFIER | chr6 | G | A | |
|
chr6:31142614
|
c.2594C>Gp.Ser865Cys | Takayasu arteritis2.36 | a0001a0007 | a0001c0006a0001c0015a0001c0017a0001c0027a0007c0013others(6): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001a0001c0027t0001a0007c0013t0003others(7): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117a0001c0006t0001g0118others(26): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00558.hp1 others(55): Show |
Whole Exome Sequencing Revealed Variants That Pred others(69): Show |
200 Han Chinese ancestry cases, 1,675 Han Chinese others(18): Show |
CCHCR1 | rs1576-? | - | MODERATE | chr6 | G | C | |
|
chr6:31151165
|
c.802-43A>G | Takayasu arteritis2.36 | a0001a0007 | a0001c0006a0001c0015a0001c0017a0001c0027a0007c0013others(5): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001a0001c0027t0001a0007c0013t0003others(6): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117a0001c0006t0001g0118others(24): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00558.hp1 others(53): Show |
Whole Exome Sequencing Revealed Variants That Pred others(69): Show |
200 Han Chinese ancestry cases, 1,675 Han Chinese others(18): Show |
CCHCR1 | rs2517985-? | - | MODIFIER | chr6 | T | C | |
|
chr6:31144825
|
c.2066-37C>G | Takayasu arteritis2.36 | a0001a0007 | a0001c0006a0001c0015a0001c0017a0001c0027a0007c0013others(5): Show | a0001c0006t0001a0001c0015t0001a0001c0017t0001a0001c0027t0001a0007c0013t0003others(6): Show | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117a0001c0006t0001g0118others(24): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00558.hp1 others(53): Show |
Whole Exome Sequencing Revealed Variants That Pred others(69): Show |
200 Han Chinese ancestry cases, 1,675 Han Chinese others(18): Show |
CCHCR1 | rs1265078-? | - | MODIFIER | chr6 | G | C | |
|
chr6:31137689
|
c.*4903G>C | Blood pressure (pleiotropy model 2 SBP adjusted for estimated causal effects x DBP)others(53): Show | a0001a0002a0003a0004a0005others(9): Show | a0001c0001a0001c0006a0001c0009a0001c0011a0001c0014others(27): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(132): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 others(373): Show |
Genome-wide pleiotropy analysis identifies novel b others(62): Show |
757,601 European ancestry individuals, 318,891 Eur others(105): Show |
PSORS1C1, PSORS1C2 | rs3132558-? | - | MODIFIER | chr6 | C | G | |
|
chr6:31137689
|
c.*4903G>C | Blood pressure (pleiotropy model 1 DBP adjusted for estimated causal effects x SBP)others(53): Show | a0001a0002a0003a0004a0005others(9): Show | a0001c0001a0001c0006a0001c0009a0001c0011a0001c0014others(27): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(132): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 others(373): Show |
Genome-wide pleiotropy analysis identifies novel b others(62): Show |
757,601 European ancestry individuals, 318,891 Eur others(105): Show |
PSORS1C1, PSORS1C2 | rs3132558-? | - | MODIFIER | chr6 | C | G | |
|
chr6:31158201
|
c.-601T>A | Psoriasis0.9997 | a0001 | a0001c0006a0001c0017a0001c0027 | a0001c0006t0001a0001c0017t0001a0001c0027t0001 | a0001c0006t0001g0014a0001c0006t0001g0018a0001c0006t0001g0023a0001c0006t0001g0117a0001c0006t0001g0118others(11): Show | HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00558.hp1 HG00738.hp2 others(27): Show |
Genomewide association study and polygenic risk sc others(59): Show |
at least 2,248 East Asian ancestry cases, at least others(37): Show |
CCHCR1 | rs3130455-? | - | MODIFIER | chr6 | A | T | |
|
chr6:31146985
|
c.1581-1177T>C | Sex hormone-binding globulin levels0.93 | a0001a0002a0003a0004a0005others(6): Show | a0001c0001a0001c0006a0001c0009a0001c0011a0001c0014others(24): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(145): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(378): Show |
Testosterone and socioeconomic position: Mendelian others(54): Show |
158,000 British ancestry women/ | CCHCR1 | rs2240062-G | - | MODIFIER | chr6 | A | G | |
|
chr6:31148749
|
c.1363-21T>C | Sex hormone-binding globulin levels1.03 | a0001a0002a0003a0005a0007others(2): Show | a0001c0001a0001c0006a0001c0009a0001c0015a0001c0017others(16): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0015t0001others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(113): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(290): Show |
Testosterone and socioeconomic position: Mendelian others(54): Show |
104,632 British ancestry post-menopausal women/ | CCHCR1 | rs3132535-G | - | MODIFIER | chr6 | A | G | |
|
chr6:31149276
|
c.1363-548T>C | Triglyceride levels0.0459381 | a0001a0002a0003a0005a0007others(1): Show | a0001c0001a0001c0006a0001c0009a0001c0011a0001c0015others(16): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(118): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(302): Show |
The power of genetic diversity in genome-wide asso others(26): Show |
40,963 South Asian ancestry individuals/ | CCHCR1 | rs2022084-G | - | MODIFIER | chr6 | A | G | |
|
chr6:31159167
|
c.-1567G>A | Complement C4 levels0.214021 | a0001a0003a0005 |