Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs369925690
rs369925690
PKHD1
C 0.700 CausalMutation CLINVAR PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852

2010
dbSNP: rs369925690
rs369925690
PKHD1
C 0.700 CausalMutation CLINVAR Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. 15805161

2005
dbSNP: rs369925690
rs369925690
PKHD1
C 0.700 CausalMutation CLINVAR Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). 15698423

2005
dbSNP: rs369925690
rs369925690
PKHD1
C 0.700 CausalMutation CLINVAR PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. 11898128

2002