| geneid | 53947 |
|---|---|
| ensemblid | ENSG00000128274.17 |
| hgncid | 18149 |
| symbol | A4GALT |
| name | alpha 1,4-galactosyltransferase (P blood group) |
| refseq_nuc | NM_017436.7 |
| refseq_prot | NP_059132.1 |
| ensembl_nuc | ENST00000642412.2 |
| ensembl_prot | ENSP00000494127.1 |
| mane_status | MANE Select |
| chr | chr22 |
| start | 42692121 |
| end | 42720870 |
| strand | - |
| ver | v1.2 |
| region | chr22:42692121-42720870 |
| region5000 | chr22:42687121-42725870 |
| regionname0 | A4GALT_chr22_42692121_42720870 |
| regionname5000 | A4GALT_chr22_42687121_42725870 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr22:42693843
|
T | C | 0.2956 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(117): Show |
a0002a0005a0006 | a0002c0003a0002c0008a0005c0006others(1): Show | a0002c0003t0001a0002c0003t0004a0002c0003t0008others(4): Show | a0002c0003t0001g0002a0002c0003t0001g0008a0002c0003t0001g0009others(112): Show | 120 | 406 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | c.109A>G | p.Met37Val | 370/2092 | 109/1062 | 37/353 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr22:42692965
|
C | T | 0.2956 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(117): Show |
a0002a0005a0006 | a0002c0003a0002c0008a0005c0006others(1): Show | a0002c0003t0001a0002c0003t0004a0002c0003t0008others(4): Show | a0002c0003t0001g0002a0002c0003t0001g0008a0002c0003t0001g0009others(112): Show | 120 | 406 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | c.987G>A | p.Thr329Thr | 1248/2092 | 987/1062 | 329/353 | ||
|
chr22:42693049
|
G | C | 0.6970 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(280): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0007a0001c0009others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(19): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(273): Show | 283 | 406 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | c.903C>G | p.Pro301Pro | 1164/2092 | 903/1062 | 301/353 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr22:42692255
|
C | T | 0.2857 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(113): Show |
a0002a0005a0006 | a0002c0003a0002c0008a0005c0006others(1): Show | a0002c0003t0001a0002c0003t0008a0002c0003t0017others(3): Show | a0002c0003t0001g0002a0002c0003t0001g0008a0002c0003t0001g0009others(108): Show | 116 | 406 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | c.*635G>A | 635 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr22:42694243
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(287): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(22): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(279): Show | 290 | 406 | 0.7143 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 2/2 | c.-46-246T>G | ||||||
|
chr22:42695173
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(118): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0003a0002c0008others(2): Show | a0001c0002t0006a0002c0003t0001a0002c0003t0004others(5): Show | a0001c0002t0006g0147a0002c0003t0001g0002a0002c0003t0001g0008others(113): Show | 121 | 406 | 0.2980 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 2/2 | c.-47+318G>A | ||||||
|
chr22:42695190
|
C | CAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(296): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(26): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(288): Show | 299 | 406 | 0.7365 | 2 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 2/2 | c.-47+300_-47+301insCT | ||||||
|
chr22:42695335
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(295): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(26): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(287): Show | 298 | 406 | 0.7340 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 2/2 | c.-47+156T>C | ||||||
|
chr22:42696121
|
C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(86): Show |
a0002a0005 | a0002c0003a0002c0008a0005c0006 | a0002c0003t0001a0002c0003t0004a0002c0003t0008others(3): Show | a0002c0003t0001g0002a0002c0003t0001g0008a0002c0003t0001g0009others(81): Show | 89 | 406 | 0.2192 | 9 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-499_-187-491dupTTTTTTTTT | ||||||
|
chr22:42696780
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(123): Show |
a0001a0002a0004others(2): Show | a0001c0002a0002c0003a0002c0008others(3): Show | a0001c0002t0006a0002c0003t0001a0002c0003t0004others(6): Show | a0001c0002t0006g0147a0002c0003t0001g0002a0002c0003t0001g0008others(118): Show | 126 | 406 | 0.3103 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-1149G>A | ||||||
|
chr22:42698021
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(296): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(26): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(288): Show | 299 | 406 | 0.7365 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-2390A>G | ||||||
|
chr22:42698246
|
CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(239): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0016others(17): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(232): Show | 242 | 406 | 0.5961 | -2 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-2617_-187-2616delTT | ||||||
|
chr22:42698334
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(223): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0020a0001c0002t0003a0001c0002t0004others(15): Show | a0001c0001t0020g0026a0001c0002t0003g0001a0001c0002t0003g0012others(216): Show | 226 | 406 | 0.5567 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-2703C>G | ||||||
|
chr22:42698459
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(111): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0003a0002c0008others(2): Show | a0001c0002t0006a0002c0003t0001a0002c0003t0004others(4): Show | a0001c0002t0006g0147a0002c0003t0001g0002a0002c0003t0001g0008others(106): Show | 114 | 406 | 0.2808 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-2828C>T | ||||||
|
chr22:42698919
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(227): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0020a0001c0002t0003a0001c0002t0004others(16): Show | a0001c0001t0020g0026a0001c0002t0003g0001a0001c0002t0003g0012others(220): Show | 230 | 406 | 0.5665 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-3288C>T | ||||||
|
chr22:42699368
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(377): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(29): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(368): Show | 380 | 406 | 0.9360 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-3737A>T | ||||||
|
chr22:42699451
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(378): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(30): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(369): Show | 381 | 406 | 0.9384 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-3820G>A | ||||||
|
chr22:42699731
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(392): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(33): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(382): Show | 395 | 406 | 0.9729 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-4100G>C | ||||||
|
chr22:42699993
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(112): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0025a0001c0002t0006a0002c0003t0001others(5): Show | a0001c0001t0025g0392a0001c0002t0006g0147a0002c0003t0001g0002others(107): Show | 115 | 406 | 0.2833 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-4362G>A | ||||||
|
chr22:42700486
|
G | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp1 others(116): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(13): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(114): Show | 119 | 406 | 0.2931 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-4855C>T | ||||||
|
chr22:42700501
|
C | T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp2 others(108): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(12): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(106): Show | 111 | 406 | 0.2734 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-4870G>A | ||||||
|
chr22:42703106
|
C | CTG | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0018others(6): Show | a0001c0001t0004g0246a0001c0001t0004g0299a0001c0001t0007g0063others(13): Show | 17 | 406 | 0.0419 | 2 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-7477_-187-7476dupCA | ||||||
|
chr22:42704573
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(281): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(26): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(273): Show | 284 | 406 | 0.6995 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-8942C>T | ||||||
|
chr22:42704876
|
GGGC | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(227): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(22): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0101others(222): Show | 230 | 406 | 0.5665 | -3 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-9248_-187-9246delGCC | ||||||
|
chr22:42704881
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(230): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(23): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0101others(225): Show | 233 | 406 | 0.5739 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-9250C>G | ||||||
|
chr22:42706354
|
C | CA | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00733.hp2 others(19): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(6): Show | a0001c0001t0002g0247a0001c0001t0002g0253a0001c0001t0002g0254others(19): Show | 22 | 406 | 0.0542 | 1 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-10724dupT | ||||||
|
chr22:42709252
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(384): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(10): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(35): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091others(376): Show | 387 | 406 | 0.9532 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+11545C>T | ||||||
|
chr22:42714274
|
C | CAAA | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01109.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0002t0003others(4): Show | a0001c0001t0002g0190a0001c0001t0002g0191a0001c0001t0002g0192others(19): Show | 22 | 406 | 0.0542 | 3 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+6520_-188+6522dupTTT |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A4GALT | 0/1 | a0002 | 353 | 114 | 44 | 20 | 24 | 11 | 14 | subcellular location copy fasta | chr22 | 42687121 | 42725870 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A4GALT | 0/1 | c0003 | 1062 | 110 | 40 | 20 | 24 | 11 | 14 | copy fasta | chr22 | 42687121 | 42725870 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A4GALT | 0/1 | t0001 | 1031 | 108 | 45 | 19 | 22 | 9 | 12 | copy fasta | chr22 | 42687121 | 42725870 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A4GALT | 0/0 | g0374 | 1 | 0 | 1 | 0 | 0 | 0 | chr22 | 42687121 | 42725870 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A4GALT | 0/1 | a0002c0003 | 110 | 40 | 20 | 24 | 11 | 14 | 1062 | copy fasta | chr22 | 42687121 | 42725870 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A4GALT | 0/1 | a0002c0003t0001 | 99 | 37 | 18 | 22 | 9 | 12 | 2092 | copy fasta | chr22 | 42687121 | 42725870 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A4GALT | 0/0 | a0002c0003t0001g0374 | 1 | 0 | 1 | 0 | 0 | 0 | chr22 | 42687121 | 42725870 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 42720797 | - | 1 | -0.8646 | -0.8646 | -0.8646 | 0.0000 | acceptor | a0002c0003t0001g0374 | HG01109.hp2 | HG01109.hp2 | A4GALT | chr22 | 42687121 | 42725870 |
| 42695491 | - | 2 | -0.7606 | -0.7606 | -0.7606 | 0.0000 | acceptor | a0002c0003t0001g0374 | HG01109.hp2 | HG01109.hp2 | A4GALT | chr22 | 42687121 | 42725870 |
| 42695631 | - | 2 | 0.8816 | 0.8816 | 0.8816 | 0.0000 | donor | a0002c0003t0001g0374 | HG01109.hp2 | HG01109.hp2 | A4GALT | chr22 | 42687121 | 42725870 |
| 42693997 | - | 3 | 0.7278 | 0.7278 | 0.7278 | 0.0000 | donor | a0002c0003t0001g0374 | HG01109.hp2 | HG01109.hp2 | A4GALT | chr22 | 42687121 | 42725870 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 42693049:splice 42693049:variant goto | c.903C>Gp.Pro301Pro | 1221433 | Benign | A4GALT:53947 | SO:0001819 synonymous_variant |
MedGen:C3661900|. | - | 5 | 9 | 22 | 276 | a0001a0002a0004a0005a0006 | a0001c0001a0001c0007a0001c0009a0001c0011a0002c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0016a0001c0001t0018others(17): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092others(271): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00408.hp1 others(278): Show |
LOW | chr22 | G | C | TogoVar |
| 42692965:splice 42692965:variant goto | c.987G>Ap.Thr329Thr | 1600484 | Benign | A4GALT:53947 | SO:0001819 synonymous_variant |
.|MedGen:C3661900 | - | 3 | 4 | 7 | 115 | a0002a0005a0006 | a0002c0003a0002c0008a0005c0006a0006c0013 | a0002c0003t0001a0002c0003t0004a0002c0003t0008a0002c0003t0017a0002c0008t0001others(2): Show | a0002c0003t0001g0002a0002c0003t0001g0008a0002c0003t0001g0009a0002c0003t0001g0010a0002c0003t0001g0085others(110): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00423.hp1 others(115): Show |
LOW | chr22 | C | T | TogoVar |
| 42693843:splice 42693843:variant goto | c.109A>Gp.Met37Val | 1529533 | Benign | A4GALT:53947 | SO:0001583 missense_variant |
MedGen:C3661900|. | - | 3 | 4 | 7 | 115 | a0002a0005a0006 | a0002c0003a0002c0008a0005c0006a0006c0013 | a0002c0003t0001a0002c0003t0004a0002c0003t0008a0002c0003t0017a0002c0008t0001others(2): Show | a0002c0003t0001g0002a0002c0003t0001g0008a0002c0003t0001g0009a0002c0003t0001g0010a0002c0003t0001g0085others(110): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00423.hp1 others(115): Show |
MODERATE | chr22 | T | C | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr22:42709252
|
c.-188+11545C>T | Cystatin C levels0.0317 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0016a0001c0001t0018others(33): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(374): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(382): Show |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
342,399 European ancestry individuals, 6,015 Afric others(64): Show |
NR | A4GALT, CYB5R3 | rs5758885-A | - | MODIFIER | chr22 | G | A |
|
chr22:42687149
|
c.*5741A>G |
Trihexosylcermide (d18:1/22:0) levels0.2 others(2): Show |
a0001a0002a0004a0005a0006 | a0001c0001a0001c0002a0001c0009a0001c0010a0002c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0022a0001c0002t0003a0001c0002t0005others(15): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0150a0001c0001t0002g0152a0001c0001t0002g0229others(159): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00423.hp1 others(167): Show |
Comprehensive genetic analysis of the human lipido others(91): Show |
4,492 European ancestry individuals/1,565 European others(21): Show |
CYB5R3 | rs130390-C | - | MODIFIER | chr22 | T | C | |
|
chr22:42687149
|
c.*5741A>G |
Trihexosylcermide (d18:1/24:1) levels0.1 others(2): Show |
a0001a0002a0004a0005a0006 | a0001c0001a0001c0002a0001c0009a0001c0010a0002c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0022a0001c0002t0003a0001c0002t0005others(15): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0150a0001c0001t0002g0152a0001c0001t0002g0229others(159): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00423.hp1 others(167): Show |
Comprehensive genetic analysis of the human lipido others(91): Show |
4,492 European ancestry individuals/ | CYB5R3 | rs130390-C | - | MODIFIER | chr22 | T | C | |
|
chr22:42687149
|
c.*5741A>G |
Dihexosylceramide (d18:1/18:0) levels0.1 others(2): Show |
a0001a0002a0004a0005a0006 | a0001c0001a0001c0002a0001c0009a0001c0010a0002c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0022a0001c0002t0003a0001c0002t0005others(15): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0150a0001c0001t0002g0152a0001c0001t0002g0229others(159): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00423.hp1 others(167): Show |
Comprehensive genetic analysis of the human lipido others(91): Show |
4,492 European ancestry individuals/ | CYB5R3 | rs130390-C | - | MODIFIER | chr22 | T | C | |
|
chr22:42687149
|
c.*5741A>G |
Trihexosylcermide (d18:1/22:0) levels0.3 others(2): Show |
a0001a0002a0004a0005a0006 | a0001c0001a0001c0002a0001c0009a0001c0010a0002c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0022a0001c0002t0003a0001c0002t0005others(15): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0150a0001c0001t0002g0152a0001c0001t0002g0229others(159): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00423.hp1 others(167): Show |
Comprehensive genetic analysis of the human lipido others(91): Show |
4,492 European ancestry individuals/ | CYB5R3 | rs130390-C | - | MODIFIER | chr22 | T | C |
