rs775557680
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs775557680(C;C) |
Make rs775557680(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 129532261 |
Gene | RHO |
is a | snp |
is | mentioned by |
dbSNP | rs775557680 |
dbSNP (classic) | rs775557680 |
ClinGen | rs775557680 |
ebi | rs775557680 |
HLI | rs775557680 |
Exac | rs775557680 |
Gnomad | rs775557680 |
Varsome | rs775557680 |
LitVar | rs775557680 |
Map | rs775557680 |
PheGenI | rs775557680 |
Biobank | rs775557680 |
1000 genomes | rs775557680 |
hgdp | rs775557680 |
ensembl | rs775557680 |
geneview | rs775557680 |
scholar | rs775557680 |
rs775557680 | |
pharmgkb | rs775557680 |
gwascentral | rs775557680 |
openSNP | rs775557680 |
23andMe | rs775557680 |
SNPshot | rs775557680 |
SNPdbe | rs775557680 |
MSV3d | rs775557680 |
GWAS Ctlg | rs775557680 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775557680(A;A) rs775557680(C;C) |
Alt | rs775557680(A;A) rs775557680(C;C) |
Reference | Rs775557680(G;G) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 4 |
Variation | info |
Gene | RHO |
CLNDBN | Retinitis pigmentosa 4 |
Reversed | 0 |
HGVS | NC_000003.11:g.129251104G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000177081.1, |