rs62636275
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs62636275(A;A) |
Make rs62636275(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 197435170 |
Gene | CRB1 |
is a | snp |
is | mentioned by |
dbSNP | rs62636275 |
dbSNP (classic) | rs62636275 |
ClinGen | rs62636275 |
ebi | rs62636275 |
HLI | rs62636275 |
Exac | rs62636275 |
Gnomad | rs62636275 |
Varsome | rs62636275 |
LitVar | rs62636275 |
Map | rs62636275 |
PheGenI | rs62636275 |
Biobank | rs62636275 |
1000 genomes | rs62636275 |
hgdp | rs62636275 |
ensembl | rs62636275 |
geneview | rs62636275 |
scholar | rs62636275 |
rs62636275 | |
pharmgkb | rs62636275 |
gwascentral | rs62636275 |
openSNP | rs62636275 |
23andMe | rs62636275 |
SNPshot | rs62636275 |
SNPdbe | rs62636275 |
MSV3d | rs62636275 |
GWAS Ctlg | rs62636275 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62636275(A;A) |
Alt | rs62636275(A;A) |
Reference | Rs62636275(G;G) |
Significance | Pathogenic |
Disease | Leber congenital amaurosis 8 Retinitis pigmentosa 12 not provided |
Variation | info |
Gene | CRB1 |
CLNDBN | Leber congenital amaurosis 8 Retinitis pigmentosa 12 not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.197404300G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006093.5, RCV000006094.4, RCV000086341.2, |