Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918043
rs121918043
PKD2
0.800 GeneticVariation UNIPROT Hydrophobic pore gates regulate ion permeation in polycystic kidney disease 2 and 2L1 channels. 29899465

2018
dbSNP: rs1553925453
rs1553925453
PKD2
0.800 GeneticVariation UNIPROT Hydrophobic pore gates regulate ion permeation in polycystic kidney disease 2 and 2L1 channels. 29899465

2018
dbSNP: rs121918043
rs121918043
PKD2
0.800 GeneticVariation UNIPROT The polycystin complex mediates Wnt/Ca(2+) signalling. 27214281

2016
dbSNP: rs121918043
rs121918043
PKD2
0.800 GeneticVariation UNIPROT Function and regulation of TRPP2 ion channel revealed by a gain-of-function mutant. 27071085

2016
dbSNP: rs1553925453
rs1553925453
PKD2
0.800 GeneticVariation UNIPROT The polycystin complex mediates Wnt/Ca(2+) signalling. 27214281

2016
dbSNP: rs1553925453
rs1553925453
PKD2
0.800 GeneticVariation UNIPROT Function and regulation of TRPP2 ion channel revealed by a gain-of-function mutant. 27071085

2016
dbSNP: rs121918043
rs121918043
PKD2
0.800 GeneticVariation UNIPROT Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). 21115670

2011
dbSNP: rs1553925453
rs1553925453
PKD2
0.800 GeneticVariation UNIPROT Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). 21115670

2011
dbSNP: rs121918043
rs121918043
PKD2
0.800 GeneticVariation UNIPROT Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. 15772804

2005
dbSNP: rs1553925453
rs1553925453
PKD2
0.800 GeneticVariation UNIPROT Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. 15772804

2005
dbSNP: rs121918043
rs121918043
PKD2
0.800 GeneticVariation UNIPROT PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease. 14993477

2004
dbSNP: rs1553925453
rs1553925453
PKD2
0.800 GeneticVariation UNIPROT PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease. 14993477

2004
dbSNP: rs121918043
rs121918043
PKD2
0.800 GeneticVariation UNIPROT Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. 12707387

2003
dbSNP: rs1553925453
rs1553925453
PKD2
0.800 GeneticVariation UNIPROT Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. 12707387

2003
dbSNP: rs121918043
rs121918043
PKD2
0.800 GeneticVariation UNIPROT Polycystin-2 is an intracellular calcium release channel. 11854751

2002
dbSNP: rs121918043
rs121918043
PKD2
0.800 GeneticVariation UNIPROT Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. 11968093

2002
dbSNP: rs1553925453
rs1553925453
PKD2
0.800 GeneticVariation UNIPROT Polycystin-2 is an intracellular calcium release channel. 11854751

2002
dbSNP: rs1553925453
rs1553925453
PKD2
0.800 GeneticVariation UNIPROT Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. 11968093

2002
dbSNP: rs121918043
rs121918043
PKD2
0.800 GeneticVariation UNIPROT Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations. 10835625

2000
dbSNP: rs1553925453
rs1553925453
PKD2
0.800 GeneticVariation UNIPROT Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations. 10835625

2000
dbSNP: rs121918043
rs121918043
PKD2
0.800 GeneticVariation UNIPROT Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease. 10411676

1999
dbSNP: rs121918043
rs121918043
PKD2
0.800 GeneticVariation UNIPROT Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. 10541293

1999
dbSNP: rs1553925453
rs1553925453
PKD2
0.800 GeneticVariation UNIPROT Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease. 10411676

1999
dbSNP: rs1553925453
rs1553925453
PKD2
0.800 GeneticVariation UNIPROT Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. 10541293

1999
dbSNP: rs121918043
rs121918043
PKD2
0.800 GeneticVariation UNIPROT A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). 9326320

1997