Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750730042
rs750730042
PKHD1
T 0.800 GeneticVariation CLINVAR Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 27225849

2016
dbSNP: rs750730042
rs750730042
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: rs750730042
rs750730042
PKHD1
T 0.800 GeneticVariation CLINVAR PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852

2010