Disease: POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1616940
rs1616940
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 Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing. 25333066 2014
dbSNP: rs1616940
rs1616940
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 Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. 22383692 2012
dbSNP: rs1567190244
rs1567190244
Entrez Id: 5310;102465429
Gene Symbol: PKD1;MIR6511B1
PKD1;MIR6511B1
CUI: C3887964
Disease:
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE 		T 0.700 GeneticVariation CLINVAR Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. 17582161 2007
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
dbSNP: rs1567187420
rs1567187420
Entrez Id: 5310;102465429
Gene Symbol: PKD1;MIR6511B1
PKD1;MIR6511B1
CUI: C3887964
Disease:
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1567195868
rs1567195868
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3887964
Disease:
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE 		CA 0.700 GeneticVariation CLINVAR