Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553619461
rs1553619461
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		C 0.800 CausalMutation CLINVAR Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC. 10408776

1999
dbSNP: rs1553619461
rs1553619461
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		C 0.800 CausalMutation CLINVAR Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912

1998