Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778235410
rs778235410
0.010 GeneticVariation BEFREE Here we generated an induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells (PBMCs) of a 63-year-old female ADPKD patient carrying an R803X mutation in the PKD2 gene using the Sendai-virus delivery system. 29055226

2017

dbSNP: rs121918043
rs121918043
0.010 GeneticVariation BEFREE Here we show that the ADPKD missense variant TRPP2(D511V) greatly reduces TRPP2 protein stability, and that TRPP2(D511V) function can be rescued in vivo by small molecules targeting the TRPP2 degradation pathway. 26924047

2016

dbSNP: rs754868200
rs754868200
0.010 GeneticVariation BEFREE Although both variants were predicted to be damaging to the mutant protein, only Y528C co-segregated with all of the PKD1-affected individuals in NFL10. 22031115

2012

dbSNP: rs886041114
rs886041114
0.010 GeneticVariation BEFREE Herein, we describe and characterize a novel missense mutation in the PKD2 gene (c.1320G>T) in a 41-year-old White man with kidney cysts and a family history of ADPKD. 20950398

2011

dbSNP: rs1392093609
rs1392093609
0.010 GeneticVariation BEFREE Our results suggest that the polymorphism at Arg25Pro of TGF-beta1 in the Korean population has an allele distribution different from that ofthe Western population and that the polymorphism at Leu10Pro of TGF-beta1 has no association with the renal progression in Korean ADPKD patients. 12572925

2003