Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs1187336837
rs1187336837
AC 0.700 CausalMutation CLINVAR Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease. 10411676

1999