Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553619963
rs1553619963
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		G 0.700 GeneticVariation CLINVAR Prediction of disease-related mutations affecting protein localization. 19309509

2009
dbSNP: rs1553619963
rs1553619963
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		G 0.700 GeneticVariation CLINVAR The N131S mutation in the von Hippel-Lindau gene in a Japanese family with pheochromocytoma and hemangioblastomas. 17001110

2006
dbSNP: rs1553619963
rs1553619963
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		G 0.700 GeneticVariation CLINVAR Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families. 10761708

2000