rs62642573
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 |
(G;T) | 3 | Carrier of a mutation for Stargardt disease |
Make rs62642573(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 94031054 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs62642573 |
dbSNP (classic) | rs62642573 |
ClinGen | rs62642573 |
ebi | rs62642573 |
HLI | rs62642573 |
Exac | rs62642573 |
Gnomad | rs62642573 |
Varsome | rs62642573 |
LitVar | rs62642573 |
Map | rs62642573 |
PheGenI | rs62642573 |
Biobank | rs62642573 |
1000 genomes | rs62642573 |
hgdp | rs62642573 |
ensembl | rs62642573 |
geneview | rs62642573 |
scholar | rs62642573 |
rs62642573 | |
pharmgkb | rs62642573 |
gwascentral | rs62642573 |
openSNP | rs62642573 |
23andMe | rs62642573 |
SNPshot | rs62642573 |
SNPdbe | rs62642573 |
MSV3d | rs62642573 |
GWAS Ctlg | rs62642573 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs62642573(A;A) rs62642573(T;T) |
Alt | rs62642573(A;A) rs62642573(T;T) |
Reference | Rs62642573(G;G) |
Significance | Other |
Disease | Stargardt disease 1 not provided |
Variation | info |
Gene | ABCA4 |
CLNDBN | Stargardt disease 1 not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.94496610C>A; NC_000001.10:g.94496610C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000408552.1, RCV000085609.1, RCV000132591.2, |