Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3887964
Disease:
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
G 0.700 GeneticVariation CLINVAR Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. 22383692 2012
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3887964
Disease:
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
G 0.700 GeneticVariation CLINVAR Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. 15772804 2005
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3887964
Disease:
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
G 0.700 GeneticVariation CLINVAR Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. 10364515 1999