rs62637004
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs62637004(G;G) |
Make rs62637004(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 68431160 |
Gene | RPE65 |
is a | snp |
is | mentioned by |
dbSNP | rs62637004 |
dbSNP (classic) | rs62637004 |
ClinGen | rs62637004 |
ebi | rs62637004 |
HLI | rs62637004 |
Exac | rs62637004 |
Gnomad | rs62637004 |
Varsome | rs62637004 |
LitVar | rs62637004 |
Map | rs62637004 |
PheGenI | rs62637004 |
Biobank | rs62637004 |
1000 genomes | rs62637004 |
hgdp | rs62637004 |
ensembl | rs62637004 |
geneview | rs62637004 |
scholar | rs62637004 |
rs62637004 | |
pharmgkb | rs62637004 |
gwascentral | rs62637004 |
openSNP | rs62637004 |
23andMe | rs62637004 |
SNPshot | rs62637004 |
SNPdbe | rs62637004 |
MSV3d | rs62637004 |
GWAS Ctlg | rs62637004 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62637004(G;G) |
Alt | rs62637004(G;G) |
Reference | Rs62637004(T;T) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 20 not provided |
Variation | info |
Gene | RPE65 |
CLNDBN | Retinitis pigmentosa 20 not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.68896843A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013995.24, RCV000085169.1, |