Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518856
rs1057518856
PKD1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1383657728
rs1383657728
PKD1 ; MIR6511B1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs5030826
rs5030826
VHL
T 0.700 CausalMutation CLINVAR

dbSNP: rs138780791
rs138780791
VHL
0.010 GeneticVariation BEFREE The142.9 kb germline deletion was significantly associated with patients with CNS haemangioblastomas (P < 0.01 by Fisher's exact test), and one missense mutation (Gln209Arg) was detected from a patient with a pancreatic cyst in the same family. 17537157

2007