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

2017
dbSNP: rs1553925453
rs1553925453
PKD2
T 0.700 CausalMutation CLINVAR Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner. 25574838

2015
dbSNP: rs1553925453
rs1553925453
PKD2
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
PKD2
T 0.700 CausalMutation CLINVAR Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. 17582161

2007
dbSNP: rs1553925453
rs1553925453
PKD2
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
PKD2
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
PKD2
T 0.700 CausalMutation CLINVAR Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. 15772804

2005
dbSNP: rs1553925453
rs1553925453
PKD2
T 0.700 CausalMutation CLINVAR [Mutation detection of PKD2 gene in Chinese by denaturing high-performance liquid chromatograph]. 15192819

2004
dbSNP: rs1553925453
rs1553925453
PKD2
T 0.700 CausalMutation CLINVAR Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. 11968093

2002