Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148812376
rs148812376
PKD1
A 0.700 GeneticVariation CLINVAR Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease. 26139440

2016
dbSNP: rs148812376
rs148812376
PKD1
A 0.700 GeneticVariation CLINVAR Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. 23064367

2012
dbSNP: rs148812376
rs148812376
PKD1
A 0.700 GeneticVariation CLINVAR Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. 19165178

2009
dbSNP: rs148812376
rs148812376
PKD1
A 0.700 CausalMutation CLINVAR