Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs748540413
rs748540413
PKHD1
C 0.800 CausalMutation CLINVAR Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies. 29956005

2018
dbSNP: rs748540413
rs748540413
PKHD1
0.800 GeneticVariation UNIPROT Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference. 25015577

2014
dbSNP: rs748540413
rs748540413
PKHD1
C 0.800 CausalMutation CLINVAR PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852

2010
dbSNP: rs748540413
rs748540413
PKHD1
C 0.800 CausalMutation CLINVAR The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. 11919560

2002