VHL rs121918381: what the research says
rs121918381
Trait
Limited evidenceGene: VHLThis variant is a pathogenic driver for Von Hippel-Lindau disease, significantly predisposing carriers to clear cell renal cell carcinoma and pheochromocytoma.
Very rare; highly penetrant for Von Hippel-Lindau disease.
Our full long-form research profile for rs121918381 — genotype interpretations, evidence review, and FAQ — is being written and will appear on this page soon.
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rs121913344
VHLTrait
LimitedPathogenic missense variant (p.Arg167Gln) predisposing to von Hippel-Lindau disease, hemangioblastomas, pheochromocytomas, and clear cell renal carcinoma.
rs121913343
VHLHealth Predisposition
LimitedPredisposes to von Hippel-Lindau disease, increasing the lifetime risk of clear cell renal carcinomas and pheochromocytomas.
rs5030807
VHLCarrier Status
ModerateA missense variant (p.Leu89Pro) in the VHL gene associated with hereditary cancer predisposition.