rs62637015
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs62637015(G;T) |
Make rs62637015(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 6425710 |
Gene | AIPL1 |
is a | snp |
is | mentioned by |
dbSNP | rs62637015 |
dbSNP (classic) | rs62637015 |
ClinGen | rs62637015 |
ebi | rs62637015 |
HLI | rs62637015 |
Exac | rs62637015 |
Gnomad | rs62637015 |
Varsome | rs62637015 |
LitVar | rs62637015 |
Map | rs62637015 |
PheGenI | rs62637015 |
Biobank | rs62637015 |
1000 genomes | rs62637015 |
hgdp | rs62637015 |
ensembl | rs62637015 |
geneview | rs62637015 |
scholar | rs62637015 |
rs62637015 | |
pharmgkb | rs62637015 |
gwascentral | rs62637015 |
openSNP | rs62637015 |
23andMe | rs62637015 |
SNPshot | rs62637015 |
SNPdbe | rs62637015 |
MSV3d | rs62637015 |
GWAS Ctlg | rs62637015 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62637015(A;A) rs62637015(T;T) |
Alt | rs62637015(A;A) rs62637015(T;T) |
Reference | Rs62637015(G;G) |
Significance | Pathogenic |
Disease | Leber congenital amaurosis 4 not provided not specified Leber congenital amaurosis |
Variation | info |
Gene | AIPL1 |
CLNDBN | Leber congenital amaurosis 4 not provided not specified Leber congenital amaurosis |
Reversed | 1 |
HGVS | NC_000017.10:g.6329030C>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000055942.1, RCV000086236.1, RCV000179479.1, RCV000394176.1, |