RHO, rhodopsin, 6010

N. diseases: 178; N. variants: 71
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893779
rs104893779
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C1998028
Disease:
Photoreceptor degeneration
0.010 GeneticVariation BEFREE D190N, a missense mutation in rhodopsin, causes photoreceptor degeneration in patients with autosomal dominant retinitis pigmentosa (adRP). 30976840 2019