rs398123339
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 3 | Carrier of a mutation for Stargardt disease |
Make rs398123339(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 94113068 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs398123339 |
dbSNP (classic) | rs398123339 |
ClinGen | rs398123339 |
ebi | rs398123339 |
HLI | rs398123339 |
Exac | rs398123339 |
Gnomad | rs398123339 |
Varsome | rs398123339 |
LitVar | rs398123339 |
Map | rs398123339 |
PheGenI | rs398123339 |
Biobank | rs398123339 |
1000 genomes | rs398123339 |
hgdp | rs398123339 |
ensembl | rs398123339 |
geneview | rs398123339 |
scholar | rs398123339 |
rs398123339 | |
pharmgkb | rs398123339 |
gwascentral | rs398123339 |
openSNP | rs398123339 |
23andMe | rs398123339 |
SNPshot | rs398123339 |
SNPdbe | rs398123339 |
MSV3d | rs398123339 |
GWAS Ctlg | rs398123339 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs398123339(G;G) |
Alt | rs398123339(G;G) |
Reference | Rs398123339(A;A) |
Significance | Pathogenic |
Disease | Stargardt disease 1 Central scotoma Macular degeneration Retinal atrophy Visual impairment |
Variation | info |
Gene | ABCA4 |
CLNDBN | Stargardt disease 1 Central scotoma Macular degeneration Retinal atrophy Visual impairment |
Reversed | 1 |
HGVS | NC_000001.10:g.94578624T>C |
CLNSRC | ClinVar |
CLNACC | RCV000078672.5, RCV000415227.1, |