rs62635654
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs62635654(C;T) |
Make rs62635654(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 197427615 |
Gene | CRB1 |
is a | snp |
is | mentioned by |
dbSNP | rs62635654 |
dbSNP (classic) | rs62635654 |
ClinGen | rs62635654 |
ebi | rs62635654 |
HLI | rs62635654 |
Exac | rs62635654 |
Gnomad | rs62635654 |
Varsome | rs62635654 |
LitVar | rs62635654 |
Map | rs62635654 |
PheGenI | rs62635654 |
Biobank | rs62635654 |
1000 genomes | rs62635654 |
hgdp | rs62635654 |
ensembl | rs62635654 |
geneview | rs62635654 |
scholar | rs62635654 |
rs62635654 | |
pharmgkb | rs62635654 |
gwascentral | rs62635654 |
openSNP | rs62635654 |
23andMe | rs62635654 |
SNPshot | rs62635654 |
SNPdbe | rs62635654 |
MSV3d | rs62635654 |
GWAS Ctlg | rs62635654 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62635654(G;G) rs62635654(T;T) |
Alt | rs62635654(G;G) rs62635654(T;T) |
Reference | Rs62635654(C;C) |
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.197396745C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006086.3, RCV000086317.1, |