Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs754392766
rs754392766
PKHD1
A 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. 19940839

2010
dbSNP: rs754392766
rs754392766
PKHD1
A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. 19940839

2010
dbSNP: rs754392766
rs754392766
PKHD1
A 0.700 CausalMutation CLINVAR Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). 16523049

2006
dbSNP: rs754392766
rs754392766
PKHD1
A 0.700 GeneticVariation CLINVAR Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). 16523049

2006
dbSNP: rs754392766
rs754392766
PKHD1
A 0.700 GeneticVariation CLINVAR PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). 15108281

2004
dbSNP: rs754392766
rs754392766
PKHD1
A 0.700 CausalMutation CLINVAR PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). 15108281

2004