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