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: 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: 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