Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893769
rs104893769
RHO
T 0.750 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019

dbSNP: rs80338902
rs80338902
A 0.750 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019

dbSNP: rs104893769
rs104893769
RHO
0.750 GeneticVariation BEFREE However, the pathogenic role of T17M rhodopsin in RP is not completely understood. 28569420

2017

dbSNP: rs104893769
rs104893769
RHO
0.750 GeneticVariation BEFREE We investigated the effects of VPA on <i>Xenopus laevis</i> models of RP expressing human P23H, T17M, T4K, and Q344ter rhodopsins, which are associated with RP in humans. 28490005

2017

dbSNP: rs80338902
rs80338902
0.750 GeneticVariation BEFREE These findings, together with a review of the literature, support the hypothesis that homozygous p.C759F mutations are not pathogenic and led us to exclude the implication of p.C759F in the RP of family S23. 25823529

2015

dbSNP: rs104893769
rs104893769
RHO
0.750 GeneticVariation BEFREE Photoactivation-induced instability of rhodopsin mutants T4K and T17M in rod outer segments underlies retinal degeneration in X. laevis transgenic models of retinitis pigmentosa. 25274813

2014

dbSNP: rs104893769
rs104893769
RHO
0.750 GeneticVariation BEFREE Many vertebrate models of retinal degeneration have been created through expression of RP-linked rhodopsins in photoreceptors including, but not limited to, VPP/GHL mice, P23H Rhodopsin frogs, P23H rhodopsin rats, S334ter rhodopsin rats, C185R rhodopsin mice, T17M rhodopsin mice, and P23H rhodopsin mice. 24664747

2014

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: rs80338902
rs80338902
0.750 GeneticVariation BEFREE Caucasian frequent mutations p.C759F in arRP and p.E767fs in USH2 were not found. 25078356

2014

dbSNP: rs80338902
rs80338902
0.750 GeneticVariation BEFREE Furthermore, the C759F mutation in the USH2A gene has been described in 4.5% of patients with nonsyndromic recessive RP. 14970843

2004

dbSNP: rs80338902
rs80338902
0.750 GeneticVariation BEFREE A patient with RP without hearing loss caused by the homozygous mutation Cys759Phe in the USH2A gene on chromosome 1q was found to be the daughter of a noncarrier mother and a father who was heterozygous for this change. 12427073

2002

dbSNP: rs80338902
rs80338902
0.750 GeneticVariation BEFREE Here, we report Cys759Phe, a novel missense mutation in this gene that changes an amino-acid residue within the fifth laminin-epidermal growth factor-like domain of the USH2A gene and that is associated with recessive RP without hearing loss. 10775529

2000

dbSNP: rs80338902
rs80338902
A 0.750 GeneticVariation CLINVAR Here, we report Cys759Phe, a novel missense mutation in this gene that changes an amino-acid residue within the fifth laminin-epidermal growth factor-like domain of the USH2A gene and that is associated with recessive RP without hearing loss. 10775529

2000

dbSNP: rs29001566
rs29001566
RHO
0.740 GeneticVariation BEFREE However, assessments of the retinal changes in P</span>347L Tg rabbits older than 1-year have not been reported even though the data are important for research on developing new therapies to restore vision at the end stages of RP. 31029790

2019

dbSNP: rs29001566
rs29001566
RHO
0.740 GeneticVariation BEFREE To determine the relationship between the amplitudes of the electrically evoked potentials (EEPs) and the number of optic nerve axons at a late stage of retinal degeneration in rhodopsin P347L transgenic (Tg) rabbits, a model of retinitis pigmentosa. 31206141

2019

dbSNP: rs147394623
rs147394623
G 0.740 CausalMutation CLINVAR Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects. 29276052

2018

dbSNP: rs147394623
rs147394623
0.740 GeneticVariation BEFREE DHDDS is of biomedical importance, as a non-conservative mutation (K42E) in the enzyme results in retinitis pigmentosa, ultimately leading to blindness. 28809830

2017

dbSNP: rs29001566
rs29001566
RHO
0.740 GeneticVariation BEFREE In this study, we found that KUS121, one of the VCP modulators, effectively protects photoreceptors both morphologically and functionally, in two animal models of retinal degeneration, rd12 mice and RP rabbits with a rhodopsin (Pro347Leu) mutation. 27503804

2016

dbSNP: rs147394623
rs147394623
G 0.740 CausalMutation CLINVAR We screened 275 North American patients with recessive/isolate retinitis pigmentosa for two mutations: an Alu insertion in the MAK gene and the p.Lys42Glu missense in the DHDDS gene. 25255364

2015

dbSNP: rs147394623
rs147394623
G 0.740 CausalMutation CLINVAR Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. 26261414

2015

dbSNP: rs147394623
rs147394623
0.740 GeneticVariation BEFREE We screened 275 North American patients with recessive/isolate retinitis pigmentosa for two mutations: an Alu insertion in the MAK gene and the p.Lys42Glu missense in the DHDDS gene. 25255364

2015

dbSNP: rs147394623
rs147394623
G 0.740 CausalMutation CLINVAR We observed a characteristic shortening of plasma and urinary dolichols in retinitis pigmentosa (RP) patients carrying K42E and T206A mutations in the dehydrodolichol diphosphate synthase (DHDDS) gene, using liquid chromatography-mass spectrometry. 24078709

2013

dbSNP: rs147394623
rs147394623
0.740 GeneticVariation BEFREE We observed a characteristic shortening of plasma and urinary dolichols in retinitis pigmentosa (RP) patients carrying K42E and T206A mutations in the dehydrodolichol diphosphate synthase (DHDDS) gene, using liquid chromatography-mass spectrometry. 24078709

2013

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: rs147394623
rs147394623
G 0.740 CausalMutation CLINVAR Clinical manifestations of patients who are homozygous for the c.124A>G mutation were within the spectrum associated with arRP. 21295282

2011