Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747322128
rs747322128
PKHD1
A 0.700 GeneticVariation CLINVAR Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. 28170084

2017
dbSNP: rs747322128
rs747322128
PKHD1
A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. 19940839

2010
dbSNP: rs747322128
rs747322128
PKHD1
A 0.700 GeneticVariation CLINVAR Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD). 16133180

2005