rs61751402
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a mutation for Stargardt disease |
(G;G) | 0 | common in clinvar |
Make rs61751402(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 94029515 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs61751402 |
dbSNP (classic) | rs61751402 |
ClinGen | rs61751402 |
ebi | rs61751402 |
HLI | rs61751402 |
Exac | rs61751402 |
Gnomad | rs61751402 |
Varsome | rs61751402 |
LitVar | rs61751402 |
Map | rs61751402 |
PheGenI | rs61751402 |
Biobank | rs61751402 |
1000 genomes | rs61751402 |
hgdp | rs61751402 |
ensembl | rs61751402 |
geneview | rs61751402 |
scholar | rs61751402 |
rs61751402 | |
pharmgkb | rs61751402 |
gwascentral | rs61751402 |
openSNP | rs61751402 |
23andMe | rs61751402 |
SNPshot | rs61751402 |
SNPdbe | rs61751402 |
MSV3d | rs61751402 |
GWAS Ctlg | rs61751402 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs61751402(A;A) |
Alt | rs61751402(A;A) |
Reference | Rs61751402(G;G) |
Significance | Pathogenic |
Disease | not provided Stargardt disease 1 Retinal dystrophy |
Variation | info |
Gene | ABCA4 |
CLNDBN | not provided Stargardt disease 1 Retinal dystrophy |
Reversed | 1 |
HGVS | NC_000001.10:g.94495071C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000085641.2, RCV000177442.3, RCV000210300.1, |