rs62645952
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs62645952(C;T) |
Make rs62645952(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 94098799 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs62645952 |
dbSNP (classic) | rs62645952 |
ClinGen | rs62645952 |
ebi | rs62645952 |
HLI | rs62645952 |
Exac | rs62645952 |
Gnomad | rs62645952 |
Varsome | rs62645952 |
LitVar | rs62645952 |
Map | rs62645952 |
PheGenI | rs62645952 |
Biobank | rs62645952 |
1000 genomes | rs62645952 |
hgdp | rs62645952 |
ensembl | rs62645952 |
geneview | rs62645952 |
scholar | rs62645952 |
rs62645952 | |
pharmgkb | rs62645952 |
gwascentral | rs62645952 |
openSNP | rs62645952 |
23andMe | rs62645952 |
SNPshot | rs62645952 |
SNPdbe | rs62645952 |
MSV3d | rs62645952 |
GWAS Ctlg | rs62645952 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62645952(G;G) rs62645952(T;T) |
Alt | rs62645952(G;G) rs62645952(T;T) |
Reference | Rs62645952(C;C) |
Significance | Pathogenic |
Disease | Cone-rod dystrophy 3 not provided |
Variation | info |
Gene | ABCA4 |
CLNDBN | Cone-rod dystrophy 3 not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.94564355G>A; NC_000001.10:g.94564355G>C |
CLNSRC | ClinVar Retina International |
CLNACC | RCV000132594.1, RCV000085865.1, |