rs76157638
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3 | Carrier of a mutation for Stargardt disease |
| (G;G) | 6 | Stargardt disease |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 94051698 |
| Gene | ABCA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs76157638 |
| dbSNP (classic) | rs76157638 |
| ClinGen | rs76157638 |
| ebi | rs76157638 |
| HLI | rs76157638 |
| Exac | rs76157638 |
| Gnomad | rs76157638 |
| Varsome | rs76157638 |
| LitVar | rs76157638 |
| Map | rs76157638 |
| PheGenI | rs76157638 |
| Biobank | rs76157638 |
| 1000 genomes | rs76157638 |
| hgdp | rs76157638 |
| ensembl | rs76157638 |
| geneview | rs76157638 |
| scholar | rs76157638 |
| rs76157638 | |
| pharmgkb | rs76157638 |
| gwascentral | rs76157638 |
| openSNP | rs76157638 |
| 23andMe | rs76157638 |
| SNPshot | rs76157638 |
| SNPdbe | rs76157638 |
| MSV3d | rs76157638 |
| GWAS Ctlg | rs76157638 |
| Merged from | Rs121909203 |
| GMAF | 0.0004591 |
| Max Magnitude | 6 |
rs76157638, also known as c.2588G>C, p.Gly863Ala and G863A, represents a rare mutation in the ABCA4 gene on chromosome 1.
Inherited recessively, the rs76157638(G) allele - as designated in dbSNP orientation - is considered pathogenic for Stargardt disease in ClinVar (and also BabySeq).
| ClinVar | |
|---|---|
| Risk | Rs76157638(G;G) |
| Alt | Rs76157638(G;G) |
| Reference | Rs76157638(C;C) |
| Significance | Other |
| Disease | Stargardt disease 1 Cone-rod dystrophy 3 not provided Abnormality of the macula Peripheral neuropathy |
| Variation | info |
| Gene | ABCA4 |
| CLNDBN | Stargardt disease 1 Cone-rod dystrophy 3 not provided Abnormality of the macula Peripheral neuropathy |
| Reversed | 0 |
| HGVS | NC_000001.10:g.94517254C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008328.5, RCV000008329.3, RCV000085494.2, RCV000197749.1, RCV000408474.1, RCV000408579.1, RCV000415097.1, |
