rs749293235, PKHD1

N. diseases: 1
Disease: Autosomal Recessive Polycystic Kidney Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Autosomal Recessive Polycystic Kidney Disease
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. 19940839 2010
Autosomal Recessive Polycystic Kidney Disease
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
0.700 CausalMutation CLINVAR