Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1302726543
rs1302726543
PKD2
T 0.700 CausalMutation CLINVAR Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD). 27499327

2016
dbSNP: rs1302726543
rs1302726543
PKD2
T 0.700 CausalMutation CLINVAR Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing. 25333066

2014
dbSNP: rs1302726543
rs1302726543
PKD2
T 0.700 CausalMutation CLINVAR Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic. 22863349

2012