Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199568593
rs199568593
PKHD1
G 0.700 GeneticVariation CLINVAR [Genetic diagnosis of Caroli syndrome with autosomal recessive polycystic kidney disease: a case report and literature review]. 29643536

2018
dbSNP: rs199568593
rs199568593
PKHD1
G 0.700 GeneticVariation CLINVAR Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation. 28851938

2017
dbSNP: rs199568593
rs199568593
PKHD1
G 0.700 GeneticVariation CLINVAR Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 27491411

2016
dbSNP: rs199568593
rs199568593
PKHD1
G 0.700 GeneticVariation CLINVAR Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease. 24710345

2014
dbSNP: rs199568593
rs199568593
PKHD1
G 0.700 GeneticVariation CLINVAR Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease. 25124979

2014