rs527236089
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs527236089(C;C) |
Make rs527236089(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 4 |
Position | 659018 |
Gene | PDE6B |
is a | snp |
is | mentioned by |
dbSNP | rs527236089 |
dbSNP (classic) | rs527236089 |
ClinGen | rs527236089 |
ebi | rs527236089 |
HLI | rs527236089 |
Exac | rs527236089 |
Gnomad | rs527236089 |
Varsome | rs527236089 |
LitVar | rs527236089 |
Map | rs527236089 |
PheGenI | rs527236089 |
Biobank | rs527236089 |
1000 genomes | rs527236089 |
hgdp | rs527236089 |
ensembl | rs527236089 |
geneview | rs527236089 |
scholar | rs527236089 |
rs527236089 | |
pharmgkb | rs527236089 |
gwascentral | rs527236089 |
openSNP | rs527236089 |
23andMe | rs527236089 |
SNPshot | rs527236089 |
SNPdbe | rs527236089 |
MSV3d | rs527236089 |
GWAS Ctlg | rs527236089 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236089(C;C) |
Alt | rs527236089(C;C) |
Reference | Rs527236089(G;G) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa |
Variation | info |
Gene | PDE6B |
CLNDBN | Retinitis pigmentosa |
Reversed | 0 |
HGVS | NC_000004.11:g.652807G>C |
CLNSRC | ClinVar |
CLNACC | RCV000132573.1, |