Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750798165
rs750798165
PKD1
C 0.700 CausalMutation CLINVAR A missense mutation in PKD1 attenuates the severity of renal disease. 22031115

2012
dbSNP: rs750798165
rs750798165
PKD1
C 0.700 CausalMutation CLINVAR Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease. 21551026

2011
dbSNP: rs750798165
rs750798165
PKD1
C 0.700 CausalMutation CLINVAR Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. 17574468

2007