rs28933394
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28933394(C;G) |
Make rs28933394(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 129528906 |
Gene | RHO |
is a | snp |
is | mentioned by |
dbSNP | rs28933394 |
dbSNP (classic) | rs28933394 |
ClinGen | rs28933394 |
ebi | rs28933394 |
HLI | rs28933394 |
Exac | rs28933394 |
Gnomad | rs28933394 |
Varsome | rs28933394 |
LitVar | rs28933394 |
Map | rs28933394 |
PheGenI | rs28933394 |
Biobank | rs28933394 |
1000 genomes | rs28933394 |
hgdp | rs28933394 |
ensembl | rs28933394 |
geneview | rs28933394 |
scholar | rs28933394 |
rs28933394 | |
pharmgkb | rs28933394 |
gwascentral | rs28933394 |
openSNP | rs28933394 |
23andMe | rs28933394 |
SNPshot | rs28933394 |
SNPdbe | rs28933394 |
MSV3d | rs28933394 |
GWAS Ctlg | rs28933394 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28933394(G;G) rs28933394(T;T) |
Alt | rs28933394(G;G) rs28933394(T;T) |
Reference | Rs28933394(C;C) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 4 |
Variation | info |
Gene | RHO |
CLNDBN | Retinitis pigmentosa 4 |
Reversed | 0 |
HGVS | NC_000003.11:g.129247749C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013890.23, |