Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893775
rs104893775
RHO
0.730 GeneticVariation BEFREE Heterozygous <i>RHO</i> p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors. 31239368

2019

dbSNP: rs104893775
rs104893775
RHO
T 0.730 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019

dbSNP: rs104893775
rs104893775
RHO
0.730 GeneticVariation BEFREE Here we report simultaneous occurrence of RP associated with bilateral nanophthalmos and acute angle-closure glaucoma in patient with a new mutation in rhodopsin (R135W). 30635925

2019

dbSNP: rs104893775
rs104893775
RHO
0.730 GeneticVariation BEFREE Specifically, both the R135L and R135W mutations (cytoplasmic end of H3) result in diffuse, severe disease (class A), but R135W causes more severe and more rapidly progressive RP than R135L. 17014888

2006