rs104893775
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104893775(C;T) |
Make rs104893775(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 129530917 |
Gene | RHO |
is a | snp |
is | mentioned by |
dbSNP | rs104893775 |
dbSNP (classic) | rs104893775 |
ClinGen | rs104893775 |
ebi | rs104893775 |
HLI | rs104893775 |
Exac | rs104893775 |
Gnomad | rs104893775 |
Varsome | rs104893775 |
LitVar | rs104893775 |
Map | rs104893775 |
PheGenI | rs104893775 |
Biobank | rs104893775 |
1000 genomes | rs104893775 |
hgdp | rs104893775 |
ensembl | rs104893775 |
geneview | rs104893775 |
scholar | rs104893775 |
rs104893775 | |
pharmgkb | rs104893775 |
gwascentral | rs104893775 |
openSNP | rs104893775 |
23andMe | rs104893775 |
SNPshot | rs104893775 |
SNPdbe | rs104893775 |
MSV3d | rs104893775 |
GWAS Ctlg | rs104893775 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893775(T;T) |
Alt | rs104893775(T;T) |
Reference | Rs104893775(C;C) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 4 Retinitis punctata albescens Retinitis pigmentosa not provided |
Variation | info |
Gene | RHO |
CLNDBN | Retinitis pigmentosa 4 Retinitis punctata albescens Retinitis pigmentosa not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.129249760C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013902.24, RCV000013903.24, RCV000132597.1, RCV000413771.1, |