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: rs1057516445
rs1057516445
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		T 0.700 GeneticVariation CLINVAR Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD). 16133180 2005