rs104893779
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104893779(A;A) |
Make rs104893779(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 129532288 |
Gene | RHO |
is a | snp |
is | mentioned by |
dbSNP | rs104893779 |
dbSNP (classic) | rs104893779 |
ClinGen | rs104893779 |
ebi | rs104893779 |
HLI | rs104893779 |
Exac | rs104893779 |
Gnomad | rs104893779 |
Varsome | rs104893779 |
LitVar | rs104893779 |
Map | rs104893779 |
PheGenI | rs104893779 |
Biobank | rs104893779 |
1000 genomes | rs104893779 |
hgdp | rs104893779 |
ensembl | rs104893779 |
geneview | rs104893779 |
scholar | rs104893779 |
rs104893779 | |
pharmgkb | rs104893779 |
gwascentral | rs104893779 |
openSNP | rs104893779 |
23andMe | rs104893779 |
SNPshot | rs104893779 |
SNPdbe | rs104893779 |
MSV3d | rs104893779 |
GWAS Ctlg | rs104893779 |
Merged from | Rs28933992 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893779(A;A) rs104893779(T;T) |
Alt | rs104893779(A;A) rs104893779(T;T) |
Reference | Rs104893779(G;G) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 4 |
Variation | info |
Gene | RHO |
CLNDBN | Retinitis pigmentosa 4 |
Reversed | 0 |
HGVS | NC_000003.11:g.129251131G>A; NC_000003.11:g.129251131G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013897.24, RCV000013915.17, |