Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124503
rs398124503
PKHD1
A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs398124503
rs398124503
PKHD1
A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. 19940839

2010
dbSNP: rs398124503
rs398124503
PKHD1
A 0.700 GeneticVariation CLINVAR Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140

2003
dbSNP: rs398124503
rs398124503
PKHD1
A 0.700 CausalMutation CLINVAR