rs5030805, VHL

N. diseases: 7
Disease: Hemangioblastoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hemangioblastoma
CUI: C0206734
Disease: Hemangioblastoma
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