rs29001566
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs29001566(C;G) |
Make rs29001566(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 129533711 |
Gene | RHO |
is a | snp |
is | mentioned by |
dbSNP | rs29001566 |
dbSNP (classic) | rs29001566 |
ClinGen | rs29001566 |
ebi | rs29001566 |
HLI | rs29001566 |
Exac | rs29001566 |
Gnomad | rs29001566 |
Varsome | rs29001566 |
LitVar | rs29001566 |
Map | rs29001566 |
PheGenI | rs29001566 |
Biobank | rs29001566 |
1000 genomes | rs29001566 |
hgdp | rs29001566 |
ensembl | rs29001566 |
geneview | rs29001566 |
scholar | rs29001566 |
rs29001566 | |
pharmgkb | rs29001566 |
gwascentral | rs29001566 |
openSNP | rs29001566 |
23andMe | rs29001566 |
SNPshot | rs29001566 |
SNPdbe | rs29001566 |
MSV3d | rs29001566 |
GWAS Ctlg | rs29001566 |
Merged from | Rs29001567 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs29001566(A;A) rs29001566(G;G) rs29001566(T;T) |
Alt | rs29001566(A;A) rs29001566(G;G) rs29001566(T;T) |
Reference | Rs29001566(C;C) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 4 not provided |
Variation | info |
Gene | RHO |
CLNDBN | Retinitis pigmentosa 4 not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.129252554C>A; NC_000003.11:g.129252554C>G; NC_000003.11:g.129252554C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013928.23, RCV000013907.23, RCV000013888.17, RCV000490027.1, |