Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555454604
rs1555454604
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease
A 0.700 CausalMutation CLINVAR Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. 17582161 2007