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, |