rs527236063
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs527236063(C;C) |
Make rs527236063(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 47839964 |
Gene | CRX |
is a | snp |
is | mentioned by |
dbSNP | rs527236063 |
dbSNP (classic) | rs527236063 |
ClinGen | rs527236063 |
ebi | rs527236063 |
HLI | rs527236063 |
Exac | rs527236063 |
Gnomad | rs527236063 |
Varsome | rs527236063 |
LitVar | rs527236063 |
Map | rs527236063 |
PheGenI | rs527236063 |
Biobank | rs527236063 |
1000 genomes | rs527236063 |
hgdp | rs527236063 |
ensembl | rs527236063 |
geneview | rs527236063 |
scholar | rs527236063 |
rs527236063 | |
pharmgkb | rs527236063 |
gwascentral | rs527236063 |
openSNP | rs527236063 |
23andMe | rs527236063 |
SNPshot | rs527236063 |
SNPdbe | rs527236063 |
MSV3d | rs527236063 |
GWAS Ctlg | rs527236063 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236063(C;C) |
Alt | rs527236063(C;C) |
Reference | Rs527236063(G;G) |
Significance | Probable-Pathogenic |
Disease | Retinitis pigmentosa |
Variation | info |
Gene | CRX |
CLNDBN | Retinitis pigmentosa |
Reversed | 0 |
HGVS | NC_000019.9:g.48343221G>C |
CLNSRC | ClinVar |
CLNACC | RCV000132605.1, |