| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:31145253
|
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 |
| 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 | 0/0 | c0014 | 2616 | 7 | 6 | 1 | 0 | 0 | 0 | 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 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCHCR1 | 0/0 | a0001c0014 | 7 | 6 | 1 | 0 | 0 | 0 | 2616 | copy fasta | 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 | -0.9747 | -0.9747 | -0.9747 | 0.0000 | acceptor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02818.hp2 HG03516.hp1 others(1): Show |
HG02630.hp1 | CCHCR1 | chr6 | 31137439 | 31162802 |
| 31157089 | - | 2 | 0.9616 | 0.9616 | 0.9615 | 0.0001 | donor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02818.hp2 HG03516.hp1 others(1): Show |
HG02630.hp1 | CCHCR1 | chr6 | 31137439 | 31162802 |
| 31156731 | - | 3 | -0.9683 | -0.9683 | -0.9683 | 0.0000 | acceptor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31156944 | - | 3 | 0.9516 | 0.9516 | 0.9516 | 0.0000 | donor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02818.hp2 HG03516.hp1 others(1): Show |
HG02630.hp1 | CCHCR1 | chr6 | 31137439 | 31162802 |
| 31154496 | - | 4 | -0.9602 | -0.9602 | -0.9602 | 0.0000 | acceptor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31154799 | - | 4 | 0.7586 | 0.7586 | 0.7586 | 0.0000 | donor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31150959 | - | 5 | -0.9993 | -0.9993 | -0.9993 | 0.0000 | acceptor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31151122 | - | 5 | 0.9979 | 0.9979 | 0.9979 | 0.0000 | donor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31150725 | - | 6 | -0.9926 | -0.9926 | -0.9926 | 0.0000 | acceptor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31150860 | - | 6 | 0.9885 | 0.9885 | 0.9885 | 0.0000 | donor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31150455 | - | 7 | -0.9961 | -0.9961 | -0.9961 | 0.0000 | acceptor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31150565 | - | 7 | 0.9961 | 0.9961 | 0.9961 | 0.0000 | donor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31150066 | - | 8 | -0.9902 | -0.9902 | -0.9902 | 0.0000 | acceptor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31150215 | - | 8 | 0.9961 | 0.9961 | 0.9961 | 0.0000 | donor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31148618 | - | 9 | -0.9978 | -0.9978 | -0.9978 | 0.0000 | acceptor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31148728 | - | 9 | 0.9983 | 0.9982 | 0.9983 | 0.0000 | donor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31148405 | - | 10 | -0.9901 | -0.9901 | -0.9901 | 0.0000 | acceptor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31148511 | - | 10 | 0.9923 | 0.9922 | 0.9923 | 0.0000 | donor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31145696 | - | 11 | -0.9639 | -0.9639 | -0.9639 | 0.0000 | acceptor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31145808 | - | 11 | 0.9757 | 0.9757 | 0.9757 | 0.0000 | donor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31145448 | - | 12 | -0.8406 | -0.8406 | -0.8406 | 0.0000 | acceptor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31145493 | - | 12 | 0.7907 | 0.7907 | 0.7907 | 0.0000 | donor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31145166 | - | 13 | -0.9788 | -0.9788 | -0.9788 | 0.0000 | acceptor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31145302 | - | 13 | 0.9996 | 0.9996 | 0.9996 | 0.0000 | donor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31144885 | - | 14 | -0.9927 | -0.9927 | -0.9927 | 0.0000 | acceptor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31145073 | - | 14 | 0.9990 | 0.9990 | 0.9990 | 0.0000 | donor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31144687 | - | 15 | -0.9894 | -0.9894 | -0.9894 | 0.0000 | acceptor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31144788 | - | 15 | 0.9972 | 0.9972 | 0.9972 | 0.0000 | donor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31143262 | - | 16 | -0.9731 | -0.9731 | -0.9731 | 0.0000 | acceptor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31143413 | - | 16 | 0.9881 | 0.9880 | 0.9881 | 0.0000 | donor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31142963 | - | 17 | -0.1973 | -0.1973 | -0.1973 | 0.0000 | acceptor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31143134 | - | 17 | 0.7099 | 0.7099 | 0.7099 | 0.0000 | donor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
CCHCR1 | chr6 | 31137439 | 31162802 |
| 31142716 | - | 18 | 0.9685 | 0.9685 | 0.9685 | 0.0000 | donor | a0001c0014 | HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
HG01175.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
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
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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 |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
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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 |
|
chr6:31138491
|
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 |
|
chr6:31137488
|
c.*5104T>C |
Hip circumference adjusted for BMI0.0159 others(3): Show |
a0001a0002a0003a0004a0005others(9): Show | a0001c0001a0001c0009a0001c0011a0001c0014a0001c0015others(25): Show | a0001c0001t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001a0001c0014t0001others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(108): Show | HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 others(313): Show |
GWAS of allometric body-shape indices in UK Bioban others(109): Show |
219,872 British ancestry women/ | PSORS1C1 | PSORS1C1 | rs3132559-G | - | MODIFIER | chr6 | A | G |
|
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 |
|
chr6:31138491
|
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 |
|
chr6:31137488
|
c.*5104T>C |
Hip circumference adjusted for BMI0.0185 others(3): Show |
a0001a0002a0003a0004a0005others(9): Show | a0001c0001a0001c0009a0001c0011a0001c0014a0001c0015others(25): Show | a0001c0001t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001a0001c0014t0001others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(108): Show | HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 others(313): Show |
GWAS of allometric body-shape indices in UK Bioban others(109): Show |
186,825 British ancestry men/ | PSORS1C1 | PSORS1C1 | rs3132559-G | - | MODIFIER | chr6 | A | G |
|
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 | |
|
chr6:31160775
|
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 | |
|
chr6:31148962
|
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 | |
|
chr6:31137488
|
c.*5104T>C | Albumin levels | a0001a0002a0003a0004a0005others(9): Show | a0001c0001a0001c0009a0001c0011a0001c0014a0001c0015others(25): Show | a0001c0001t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001a0001c0014t0001others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(108): Show | HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 others(313): Show |
Phenome-wide analysis of Taiwan Biobank reveals no others(57): Show |
76,638 Taiwanese ancestry individuals/ | PSORS1C1 | rs3132559-? | - | MODIFIER | chr6 | A | G | |
|
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 | |
|
chr6:31146985
|
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 | |
|
chr6:31159167
|
c.-1567G>A | Complement C4 levels0.214021 | a0001a0003a0005 | a0001c0001a0001c0006a0001c0009a0001c0011a0001c0014others(8): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004a0001c0009t0005a0001c0011t0001others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0022others(94): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(249): Show |
Differences and commonalities in the genetic archi others(76): Show |
2,935 Qatari ancestry individuals/ | TCF19 | rs3094187-C | - | MODIFIER | chr6 | C | T | |
|
chr6:31138491
|
c.*4101T>C | LAG3/VCAM1 protein level ratio0.0624673 | 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 |
Genetic associations with ratios between protein l others(63): Show |
43,509 European ancestry individuals/ | PSORS1C2, PSORS1C1 | rs3130573-? | - | MODIFIER | chr6 | A | G |