Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0158683
Disease:
Polycystic liver disease
A 0.700 GeneticVariation CLINVAR Isolated polycystic liver disease genes define effectors of polycystin-1 function. 28375157 2017
dbSNP: rs137852949
rs137852949
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0158683
Disease:
Polycystic liver disease
A 0.700 GeneticVariation CLINVAR Isolated polycystic liver disease genes define effectors of polycystin-1 function. 28375157 2017
dbSNP: rs746972457
rs746972457
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0158683
Disease:
Polycystic liver disease
T 0.700 GeneticVariation CLINVAR Isolated polycystic liver disease genes define effectors of polycystin-1 function. 28375157 2017
dbSNP: rs781368899
rs781368899
Entrez Id: 5314;105375087
Gene Symbol: PKHD1;LOC105375087
PKHD1;LOC105375087
CUI: C0158683
Disease:
Polycystic liver disease
A 0.700 GeneticVariation CLINVAR Isolated polycystic liver disease genes define effectors of polycystin-1 function. 28375157 2017