Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476095
rs199476095
PKD1 ; TSC2 ; MIR1225 ; LOC105371049
0.010 GeneticVariation BEFREE An affected son, but not the mother, in the Italian family had the nonsense mutation PKD1: p.R4228X, which appeared de novo in the son, with simple cysts probably explaining the mother's phenotype. 23760289

2014