Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476100
rs199476100
0.800 GeneticVariation UNIPROT Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. 15772804

2005

dbSNP: rs199476099
rs199476099
0.800 GeneticVariation UNIPROT Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. 10364515

1999

dbSNP: rs199476099
rs199476099
0.800 CausalMutation CLINVAR Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. 10364515

1999

dbSNP: rs199476100
rs199476100
0.800 CausalMutation CLINVAR Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. 10364515

1999

dbSNP: rs199476100
rs199476100
0.800 GeneticVariation UNIPROT Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. 10364515

1999

dbSNP: rs1057516041
rs1057516041
0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2017

dbSNP: rs1057516041
rs1057516041
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057518897
rs1057518897
0.700 GeneticVariation UNIPROT Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. 22508176

2012

dbSNP: rs114251396
rs114251396
0.700 GeneticVariation UNIPROT Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. 22508176

2012

dbSNP: rs1616940
rs1616940
0.700 GeneticVariation UNIPROT Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. 22508176

2012

dbSNP: rs151257298
rs151257298
0.700 GeneticVariation UNIPROT Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). 21115670

2011

dbSNP: rs1616940
rs1616940
0.700 GeneticVariation UNIPROT Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). 21115670

2011

dbSNP: rs200037070
rs200037070
0.700 GeneticVariation UNIPROT Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). 21115670

2011

dbSNP: rs374500158
rs374500158
0.700 GeneticVariation UNIPROT Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). 21115670

2011

dbSNP: rs752447240
rs752447240
0.700 GeneticVariation UNIPROT Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). 21115670

2011

dbSNP: rs758896945
rs758896945
0.700 GeneticVariation UNIPROT Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). 21115670

2011

dbSNP: rs1033550407
rs1033550407
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009

dbSNP: rs140869992
rs140869992
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009

dbSNP: rs149151043
rs149151043
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009

dbSNP: rs2549677
rs2549677
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009

dbSNP: rs886038369
rs886038369
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009

dbSNP: rs9925969
rs9925969
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009

dbSNP: rs9936785
rs9936785
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009

dbSNP: rs9925969
rs9925969
0.700 GeneticVariation UNIPROT Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. 15772804

2005

dbSNP: rs9936785
rs9936785
0.700 GeneticVariation UNIPROT Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. 15772804

2005