rs62625014
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs62625014(A;A) |
Make rs62625014(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 47937535 |
Gene | CNGA1, LOC101927157 |
is a | snp |
is | mentioned by |
dbSNP | rs62625014 |
dbSNP (classic) | rs62625014 |
ClinGen | rs62625014 |
ebi | rs62625014 |
HLI | rs62625014 |
Exac | rs62625014 |
Gnomad | rs62625014 |
Varsome | rs62625014 |
LitVar | rs62625014 |
Map | rs62625014 |
PheGenI | rs62625014 |
Biobank | rs62625014 |
1000 genomes | rs62625014 |
hgdp | rs62625014 |
ensembl | rs62625014 |
geneview | rs62625014 |
scholar | rs62625014 |
rs62625014 | |
pharmgkb | rs62625014 |
gwascentral | rs62625014 |
openSNP | rs62625014 |
23andMe | rs62625014 |
SNPshot | rs62625014 |
SNPdbe | rs62625014 |
MSV3d | rs62625014 |
GWAS Ctlg | rs62625014 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62625014(A;A) rs62625014(C;C) |
Alt | rs62625014(A;A) rs62625014(C;C) |
Reference | Rs62625014(G;G) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 49 |
Variation | info |
Gene | CNGA1 LOC101927157 |
CLNDBN | Retinitis pigmentosa 49 |
Reversed | 0 |
HGVS | NC_000004.11:g.47939552G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018440.27, RCV000199453.1, |