Gene: RHO ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs29001566
rs29001566
RHO
G 0.740 GeneticVariation CLINVAR

dbSNP: rs104893772
rs104893772
RHO
A 0.710 GeneticVariation CLINVAR

dbSNP: rs104893781
rs104893781
RHO
T 0.710 GeneticVariation CLINVAR

dbSNP: rs104893786
rs104893786
RHO
G 0.710 CausalMutation CLINVAR

dbSNP: rs200946638
rs200946638
RHO
A 0.710 CausalMutation CLINVAR

dbSNP: rs104893794
rs104893794
RHO
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553780837
rs1553780837
RHO
G 0.700 GeneticVariation CLINVAR

dbSNP: rs527236100
rs527236100
RHO
A 0.700 CausalMutation CLINVAR

dbSNP: rs527236101
rs527236101
RHO
A 0.700 GeneticVariation CLINVAR

dbSNP: rs527236102
rs527236102
RHO
A 0.700 GeneticVariation CLINVAR

dbSNP: rs527236103
rs527236103
RHO
A 0.700 CausalMutation CLINVAR

dbSNP: rs28933395
rs28933395
RHO
G 0.700 GeneticVariation CLINVAR A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. 1301135

1992
dbSNP: rs104893768
rs104893768
RHO
0.100 GeneticVariation BEFREE We inserted into the germline of mice either a mutant or wild-type allele from a patient with retinitis pigmentosa and a missense mutation (P23H) in the rhodopsin gene. 1418997

1992
dbSNP: rs775557680
rs775557680
RHO
A 0.730 GeneticVariation CLINVAR Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. 1833777

1991
dbSNP: rs29001566
rs29001566
RHO
T 0.740 GeneticVariation CLINVAR Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. 2215617

1990
dbSNP: rs104893768
rs104893768
RHO
0.100 GeneticVariation BEFREE Patients with retinitis pigmentosa and the pro-23-his rhodopsin mutation had a decrease in the gain of activation. 7601641

1995
dbSNP: rs774336493
rs774336493
RHO
0.010 GeneticVariation BEFREE Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa. 8076945

1994
dbSNP: rs104893783
rs104893783
RHO
0.010 GeneticVariation BEFREE The finding of gln64-to-ter in a family with autosomal dominant RP is in contrast to a recent report of a recessive disease phenotype associated with the rhodopsin mutation glu249-to-ter. 8317502

1993
dbSNP: rs104893779
rs104893779
RHO
T 0.720 GeneticVariation CLINVAR Rhodopsin mutations in autosomal dominant retinitis pigmentosa. 8401533

1993
dbSNP: rs104893781
rs104893781
RHO
0.710 GeneticVariation BEFREE Our results suggest that the Pro-267-Leu rhodopsin mutation is associated with a very mild phenotype of retinitis pigmentosa. 9228242

1997
dbSNP: rs104893786
rs104893786
RHO
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
dbSNP: rs104893787
rs104893787
RHO
0.010 GeneticVariation BEFREE Further, naturally occurring single mutations of the intradiscal cysteines (C110F, C110Y, and C187Y) are associated with retinitis pigmentosa (RP). 10051572

1999
dbSNP: rs104893773
rs104893773
RHO
0.720 GeneticVariation BEFREE This study revealed three RHO mutations in patients with adRP (G106R, R135W, and c.998999ins4) and a number of frequent or rare polymorphisms. 10521250

1999
dbSNP: rs104893773
rs104893773
RHO
0.720 GeneticVariation BEFREE The Gly106Arg mutation of the rhodopsin gene has been found in Japanese patients with sectorial retinitis pigmentosa. 11094174

2001
dbSNP: rs775557680
rs775557680
RHO
0.730 GeneticVariation BEFREE Retinal histopathology of an autopsy eye with advanced retinitis pigmentosa in a family with rhodopsin Glu181Lys. 11124299

2000