Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199839578
rs199839578
PKHD1 ; LOC105375087
A 0.700 CausalMutation CLINVAR [Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease]. 27577217

2016
dbSNP: rs199839578
rs199839578
PKHD1 ; LOC105375087
A 0.700 CausalMutation 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: rs199839578
rs199839578
PKHD1 ; LOC105375087
A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs199839578
rs199839578
PKHD1 ; LOC105375087
A 0.700 GeneticVariation CLINVAR PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). 15108281

2004
dbSNP: rs199839578
rs199839578
PKHD1 ; LOC105375087
A 0.700 CausalMutation CLINVAR PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). 15108281

2004