rs527236058
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs527236058(-;-) |
Make rs527236058(-;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 4 |
Position | 47951398 |
Gene | CNGA1, LOC101927157 |
is a | snp |
is | mentioned by |
dbSNP | rs527236058 |
dbSNP (classic) | rs527236058 |
ClinGen | rs527236058 |
ebi | rs527236058 |
HLI | rs527236058 |
Exac | rs527236058 |
Gnomad | rs527236058 |
Varsome | rs527236058 |
LitVar | rs527236058 |
Map | rs527236058 |
PheGenI | rs527236058 |
Biobank | rs527236058 |
1000 genomes | rs527236058 |
hgdp | rs527236058 |
ensembl | rs527236058 |
geneview | rs527236058 |
scholar | rs527236058 |
rs527236058 | |
pharmgkb | rs527236058 |
gwascentral | rs527236058 |
openSNP | rs527236058 |
23andMe | rs527236058 |
SNPshot | rs527236058 |
SNPdbe | rs527236058 |
MSV3d | rs527236058 |
GWAS Ctlg | rs527236058 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236058(-;-) |
Alt | rs527236058(-;-) |
Reference | Rs527236058(G;G) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa Retinitis pigmentosa 49 |
Variation | info |
Gene | CNGA1 LOC101927157 |
CLNDBN | Retinitis pigmentosa Retinitis pigmentosa 49 |
Reversed | 1 |
HGVS | NC_000004.11:g.47953415delC |
CLNSRC | ClinVar |
CLNACC | RCV000132620.1, RCV000490404.1, |