Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1567187420
rs1567187420
A 0.700 CausalMutation CLINVAR

dbSNP: rs1567190244
rs1567190244
T 0.700 GeneticVariation CLINVAR Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. 17582161

2007

dbSNP: rs1567195868
rs1567195868
CA 0.700 GeneticVariation CLINVAR

dbSNP: rs1616940
rs1616940
G 0.700 GeneticVariation CLINVAR Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. 22383692

2012

dbSNP: rs1616940
rs1616940
G 0.700 GeneticVariation CLINVAR Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing. 25333066

2014

dbSNP: rs199476100
rs199476100
G 0.700 GeneticVariation CLINVAR Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. 15772804

2005

dbSNP: rs199476100
rs199476100
G 0.700 GeneticVariation 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
G 0.700 GeneticVariation CLINVAR Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. 22383692

2012

dbSNP: rs879255641
rs879255641
C 0.700 CausalMutation CLINVAR

dbSNP: rs770519542
rs770519542
0.700 GeneticVariation UNIPROT Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. 27259053

2016

dbSNP: rs879255642
rs879255642
0.700 GeneticVariation UNIPROT Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. 27259053

2016

dbSNP: rs879255643
rs879255643
0.700 GeneticVariation UNIPROT Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. 27259053

2016