rs62635659
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs62635659(C;C) |
Make rs62635659(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 197435162 |
Gene | CRB1 |
is a | snp |
is | mentioned by |
dbSNP | rs62635659 |
dbSNP (classic) | rs62635659 |
ClinGen | rs62635659 |
ebi | rs62635659 |
HLI | rs62635659 |
Exac | rs62635659 |
Gnomad | rs62635659 |
Varsome | rs62635659 |
LitVar | rs62635659 |
Map | rs62635659 |
PheGenI | rs62635659 |
Biobank | rs62635659 |
1000 genomes | rs62635659 |
hgdp | rs62635659 |
ensembl | rs62635659 |
geneview | rs62635659 |
scholar | rs62635659 |
rs62635659 | |
pharmgkb | rs62635659 |
gwascentral | rs62635659 |
openSNP | rs62635659 |
23andMe | rs62635659 |
SNPshot | rs62635659 |
SNPdbe | rs62635659 |
MSV3d | rs62635659 |
GWAS Ctlg | rs62635659 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62635659(C;C) rs62635659(G;G) |
Alt | rs62635659(C;C) rs62635659(G;G) |
Reference | Rs62635659(T;T) |
Significance | Pathogenic |
Disease | not provided Leber congenital amaurosis 8 |
Variation | info |
Gene | CRB1 |
CLNDBN | not provided Leber congenital amaurosis 8 |
Reversed | 0 |
HGVS | NC_000001.10:g.197404292T>C; NC_000001.10:g.197404292T>G |
CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
CLNACC | RCV000086339.1, RCV000006088.4, RCV000086340.1, |