rs527236100
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs527236100(A;A) |
Make rs527236100(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 129532282 |
Gene | RHO |
is a | snp |
is | mentioned by |
dbSNP | rs527236100 |
dbSNP (classic) | rs527236100 |
ClinGen | rs527236100 |
ebi | rs527236100 |
HLI | rs527236100 |
Exac | rs527236100 |
Gnomad | rs527236100 |
Varsome | rs527236100 |
LitVar | rs527236100 |
Map | rs527236100 |
PheGenI | rs527236100 |
Biobank | rs527236100 |
1000 genomes | rs527236100 |
hgdp | rs527236100 |
ensembl | rs527236100 |
geneview | rs527236100 |
scholar | rs527236100 |
rs527236100 | |
pharmgkb | rs527236100 |
gwascentral | rs527236100 |
openSNP | rs527236100 |
23andMe | rs527236100 |
SNPshot | rs527236100 |
SNPdbe | rs527236100 |
MSV3d | rs527236100 |
GWAS Ctlg | rs527236100 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236100(A;A) |
Alt | rs527236100(A;A) |
Reference | Rs527236100(G;G) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa |
Variation | info |
Gene | RHO |
CLNDBN | Retinitis pigmentosa |
Reversed | 0 |
HGVS | NC_000003.11:g.129251125G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000132600.1, |