rs104893786, RHO

N. diseases: 3
Disease: Retinitis Pigmentosa ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.710 GeneticVariation BEFREE To determine the phenotype of a Japanese family in which retinitis pigmentosa cosegregates with a rhodopsin gene mutation, i.e. an asparagine-to-serine change at codon 15 (Asn-15-Ser), 5 affected and 5 unaffected members of one pedigree underwent several ophthalmic examinations as well as Ganzfeld electroretinography (ERG) and multifocal ERG. 9483582 1998
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.710 CausalMutation CLINVAR