Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553925453
rs1553925453
T 0.700 CausalMutation CLINVAR PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis. 28356211

2017

dbSNP: rs1302726543
rs1302726543
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: rs749004212
rs749004212
T 0.700 CausalMutation CLINVAR System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease. 27782177

2016

dbSNP: rs1553925453
rs1553925453
T 0.700 CausalMutation CLINVAR Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner. 25574838

2015

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

2014

dbSNP: rs749004212
rs749004212
T 0.700 CausalMutation CLINVAR Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing. 24374109

2014

dbSNP: rs121918040
rs121918040
T 0.700 CausalMutation CLINVAR Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany. 23300259

2013

dbSNP: rs1553925453
rs1553925453
T 0.700 CausalMutation CLINVAR Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany. 23300259

2013

dbSNP: rs749004212
rs749004212
T 0.700 CausalMutation CLINVAR Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany. 23300259

2013

dbSNP: rs1131692280
rs1131692280
A 0.700 CausalMutation CLINVAR Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. 22383692

2012

dbSNP: rs1131692280
rs1131692280
A 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

dbSNP: rs1187336837
rs1187336837
AC 0.700 CausalMutation CLINVAR Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. 22508176

2012

dbSNP: rs121918040
rs121918040
T 0.700 CausalMutation CLINVAR Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. 22383692

2012

dbSNP: rs1302726543
rs1302726543
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

dbSNP: rs1553927080
rs1553927080
A 0.700 GeneticVariation CLINVAR Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic. 22863349

2012

dbSNP: rs749004212
rs749004212
T 0.700 CausalMutation CLINVAR Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. 22508176

2012

dbSNP: rs1187336837
rs1187336837
AC 0.700 CausalMutation CLINVAR Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009

dbSNP: rs1131692280
rs1131692280
A 0.700 CausalMutation CLINVAR Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. 17582161

2007

dbSNP: rs1553925453
rs1553925453
T 0.700 CausalMutation CLINVAR Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. 17582161

2007

dbSNP: rs1553927080
rs1553927080
A 0.700 GeneticVariation CLINVAR Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. 17582161

2007

dbSNP: rs1553925453
rs1553925453
T 0.700 CausalMutation CLINVAR Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome. 16540757

2006

dbSNP: rs1553925453
rs1553925453
T 0.700 CausalMutation CLINVAR PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning. 17100995

2006

dbSNP: rs1553925453
rs1553925453
T 0.700 CausalMutation CLINVAR Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. 15772804

2005

dbSNP: rs1553925453
rs1553925453
T 0.700 CausalMutation CLINVAR [Mutation detection of PKD2 gene in Chinese by denaturing high-performance liquid chromatograph]. 15192819

2004

dbSNP: rs1131692280
rs1131692280
A 0.700 CausalMutation CLINVAR Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. 12707387

2003