rs62636291
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs62636291(C;C) |
Make rs62636291(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 197435404 |
Gene | CRB1 |
is a | snp |
is | mentioned by |
dbSNP | rs62636291 |
dbSNP (classic) | rs62636291 |
ClinGen | rs62636291 |
ebi | rs62636291 |
HLI | rs62636291 |
Exac | rs62636291 |
Gnomad | rs62636291 |
Varsome | rs62636291 |
LitVar | rs62636291 |
Map | rs62636291 |
PheGenI | rs62636291 |
Biobank | rs62636291 |
1000 genomes | rs62636291 |
hgdp | rs62636291 |
ensembl | rs62636291 |
geneview | rs62636291 |
scholar | rs62636291 |
rs62636291 | |
pharmgkb | rs62636291 |
gwascentral | rs62636291 |
openSNP | rs62636291 |
23andMe | rs62636291 |
SNPshot | rs62636291 |
SNPdbe | rs62636291 |
MSV3d | rs62636291 |
GWAS Ctlg | rs62636291 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62636291(C;C) |
Alt | rs62636291(C;C) |
Reference | Rs62636291(T;T) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 12 not provided |
Variation | info |
Gene | CRB1 |
CLNDBN | Retinitis pigmentosa 12 not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.197404534T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006091.4, RCV000086346.1, |