Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118184842
rs118184842
RNF139
0.010 GeneticVariation BEFREE This report supports that the novel mutation of RNF139 p.Q650R probably serve as a key role in HBs progression. 31031691

2019
dbSNP: rs1064794037
rs1064794037
VHL
0.010 GeneticVariation BEFREE Family A, with deletion of exon 3 in the VHL gene, and family B, with the missense mutation p.R79P, exhibited type 1 VHL characterized by the absence of pheochromocytoma and a high incidence of central nervous system hemangioblastomas. 24555745

2014
dbSNP: rs5030805
rs5030805
VHL
0.010 GeneticVariation BEFREE The authors describe a case of multiple CNS HBs in a patient with a heterozygous de novo germline mutation at c.239G>T [p.S80I] of VHL. 24678776

2014
dbSNP: rs869025667
rs869025667
VHL
0.010 GeneticVariation BEFREE A novel missense mutation (p.L198P) was identified in the VHL gene in the patient from family C. This p.L198P mutation caused a phenotype with early onset of a neuroendocrine tumor of the pancreas, bilateral pheochromocytomas, and optic nerve hemangioblastoma. 24555745

2014
dbSNP: rs1064794272
rs1064794272
VHL
0.010 GeneticVariation BEFREE A case of carotid body paraganglioma and haemangioblastoma of the spinal cord in a patient with the N131K missense mutation in the VHL gene. 21384277

2011
dbSNP: rs704
rs704
VTN ; SARM1
0.010 GeneticVariation BEFREE A vitronectin M381T polymorphism increases risk of hemangioblastoma in patients with VHL gene defect. 19288063

2009
dbSNP: rs104893824
rs104893824
VHL
0.010 GeneticVariation BEFREE From analysis of naturally occurring pVHL mutants, it seems that only point mutations such as pVHL(Y98H) and pVHL(Y112H) (that predispose to haemangioblastoma and phaeochromocytoma, but not to renal cell carcinoma) disrupt pVHL's microtubule-stabilizing function. 12510195

2003
dbSNP: rs1416313401
rs1416313401
SYBU
0.010 GeneticVariation BEFREE From analysis of naturally occurring pVHL mutants, it seems that only point mutations such as pVHL(Y98H) and pVHL(Y112H) (that predispose to haemangioblastoma and phaeochromocytoma, but not to renal cell carcinoma) disrupt pVHL's microtubule-stabilizing function. 12510195

2003
dbSNP: rs5030809
rs5030809
VHL
0.010 GeneticVariation BEFREE From analysis of naturally occurring pVHL mutants, it seems that only point mutations such as pVHL(Y98H) and pVHL(Y112H) (that predispose to haemangioblastoma and phaeochromocytoma, but not to renal cell carcinoma) disrupt pVHL's microtubule-stabilizing function. 12510195

2003