Disease: Autosomal Recessive Polycystic Kidney Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750798165
rs750798165
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		C 0.700 CausalMutation CLINVAR A missense mutation in PKD1 attenuates the severity of renal disease. 22031115 2012
dbSNP: rs750798165
rs750798165
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		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
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		C 0.700 CausalMutation CLINVAR Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. 17574468 2007