Gene: RHO ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553781176
rs1553781176
RHO
G 0.700 GeneticVariation CLINVAR Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. 11139241

2001
dbSNP: rs762059468
rs762059468
RHO
0.010 GeneticVariation BEFREE A second missense mutation Gly122Glu has been observed in a simplex RP patient that may represent a sporadic case of retinitis pigmentosa.Hum Mutat 17:520, 2001. 11385710

2001
dbSNP: rs779665096
rs779665096
RHO
0.010 GeneticVariation BEFREE The finding of controls with Ala299Ser suggests this is only the third missense alteration reported that does not cause RP. 11520753

2001
dbSNP: rs104893768
rs104893768
RHO
0.100 GeneticVariation BEFREE We show that expression of P23H, but not wild-type rhodopsin, results in a generalized impairment of the ubiquitin proteasome system, suggesting a mechanism for photoreceptor degeneration that links RP to a broad class of neurodegenerative diseases. 12091393

2002
dbSNP: rs104893768
rs104893768
RHO
0.100 GeneticVariation BEFREE Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His. 12140048

2002
dbSNP: rs775557680
rs775557680
RHO
0.730 GeneticVariation BEFREE Histologic study of retinitis pigmentosa due to a mutation in the RP13 gene (PRPC8): comparison with rhodopsin Pro23His, Cys110Arg, and Glu181Lys. 15126168

2004
dbSNP: rs104893768
rs104893768
RHO
0.100 GeneticVariation BEFREE Histologic study of retinitis pigmentosa due to a mutation in the RP13 gene (PRPC8): comparison with rhodopsin Pro23His, Cys110Arg, and Glu181Lys. 15126168

2004
dbSNP: rs104893774
rs104893774
RHO
0.020 GeneticVariation BEFREE An Arg135Leu change in rhodopsin results in a severe form of RP that evolves through various fundus appearances that include white dots early in life and classic appearing RP later. 15548806

2004
dbSNP: rs886041233
rs886041233
RHO
0.020 GeneticVariation BEFREE An Arg135Leu change in rhodopsin results in a severe form of RP that evolves through various fundus appearances that include white dots early in life and classic appearing RP later. 15548806

2004
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
dbSNP: rs104893774
rs104893774
RHO
0.020 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
dbSNP: rs886041233
rs886041233
RHO
0.020 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
dbSNP: rs538820015
rs538820015
RHO
0.020 GeneticVariation BEFREE There were no affected subjects with amino acid substitutions in RHO, and there was 1 control subject with a novel substitution (Ala42Thr) who had no symptoms of RP. 17653048

2007
dbSNP: rs104893768
rs104893768
RHO
0.100 GeneticVariation BEFREE Dark rearing rescues P23H rhodopsin-induced retinal degeneration in a transgenic Xenopus laevis model of retinitis pigmentosa: a chromophore-dependent mechanism characterized by production of N-terminally truncated mutant rhodopsin. 17715341

2007
dbSNP: rs104893779
rs104893779
RHO
0.720 GeneticVariation BEFREE Patients with RHO (D190N) autosomal dominant retinitis pigmentosa (adRP) can show classic signs of RP on fundus examination and may be able to maintain good central visual acuity into adulthood. 19085385

2008
dbSNP: rs104893768
rs104893768
RHO
0.100 GeneticVariation BEFREE We found no evidence for an association between telomere length and the severity of RP as monitored by the cone ERG in patients with the Pro23His rhodopsin mutation. 19325938

2009
dbSNP: rs104893768
rs104893768
RHO
0.100 GeneticVariation BEFREE Retinobenzaldehydes as proper-trafficking inducers of folding-defective P23H rhodopsin mutant responsible for retinitis pigmentosa. 20805032

2010
dbSNP: rs538820015
rs538820015
RHO
0.020 GeneticVariation BEFREE Clinical manifestations of patients who are homozygous for the c.124A>G mutation were within the spectrum associated with arRP. 21295282

2011
dbSNP: rs104893772
rs104893772
RHO
0.710 GeneticVariation BEFREE We have previously shown that mutant rhodopsins G51V and G89D, associated with retinitis pigmentosa, present photobleaching patterns characterized by the formation of altered photointermediates whose nature remained obscure. 21352497

2011
dbSNP: rs104893790
rs104893790
RHO
0.010 GeneticVariation BEFREE G90D has been classically associated with congenital night blindness, whereas the newly reported G90V substitution was linked to a retinitis pigmentosa phenotype. 21940625

2011
dbSNP: rs29001566
rs29001566
RHO
0.740 GeneticVariation BEFREE The results present the possibility that CME in RP patients may be associated with a specific genotype such as the p.P347L in RHO. 22217031

2012
dbSNP: rs1422016730
rs1422016730
RHO
0.010 GeneticVariation BEFREE Here we present an association between the clinical presentations of adRP and sequence variants involving novel M216L mutation in the RHO gene together with nonsynonimous sequence changes R872H, N985Y, A1670T, S1691P, C2033Y, and synonimous Q1725Q with novel, N1521N, and T1733T SNPs in the RP1 gene of uncertain pathogenicity in a Turkish family with autosomal dominant retinitis pigmentosa. 22321012

2012
dbSNP: rs104893779
rs104893779
RHO
0.720 GeneticVariation BEFREE Thermal stability of rhodopsin and progression of retinitis pigmentosa: comparison of S186W and D190N rhodopsin mutants. 23625926

2013
dbSNP: rs104893769
rs104893769
RHO
0.750 GeneticVariation BEFREE These findings show novel insight into the properties of T17M rhodopsin and highlight the role of ER stress in T17M‑associated RP. 24573320

2014
dbSNP: rs104893768
rs104893768
RHO
0.100 GeneticVariation BEFREE A Pro23His mutation alters prenatal rod photoreceptor morphology in a transgenic swine model of retinitis pigmentosa. 24618321

2014