rs62637010
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs62637010(C;C) |
Make rs62637010(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 6426934 |
Gene | AIPL1 |
is a | snp |
is | mentioned by |
dbSNP | rs62637010 |
dbSNP (classic) | rs62637010 |
ClinGen | rs62637010 |
ebi | rs62637010 |
HLI | rs62637010 |
Exac | rs62637010 |
Gnomad | rs62637010 |
Varsome | rs62637010 |
LitVar | rs62637010 |
Map | rs62637010 |
PheGenI | rs62637010 |
Biobank | rs62637010 |
1000 genomes | rs62637010 |
hgdp | rs62637010 |
ensembl | rs62637010 |
geneview | rs62637010 |
scholar | rs62637010 |
rs62637010 | |
pharmgkb | rs62637010 |
gwascentral | rs62637010 |
openSNP | rs62637010 |
23andMe | rs62637010 |
SNPshot | rs62637010 |
SNPdbe | rs62637010 |
MSV3d | rs62637010 |
GWAS Ctlg | rs62637010 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62637010(C;C) |
Alt | rs62637010(C;C) |
Reference | Rs62637010(G;G) |
Significance | Pathogenic |
Disease | Leber congenital amaurosis 4 not provided |
Variation | info |
Gene | AIPL1 |
CLNDBN | Leber congenital amaurosis 4 not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.6330254C>G |
CLNSRC | ClinVar GeneReviews Retina International |
CLNACC | RCV000055939.1, RCV000086228.1, |