Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780077
rs587780077
VHL
0.810 GeneticVariation BEFREE This is the first study that identified VHL p.A149S mutation in a Turkish family with VHL syndrome. 23673869

2014
dbSNP: rs587780077
rs587780077
VHL
0.810 GeneticVariation UNIPROT Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients. 9452106

1998
dbSNP: rs587780077
rs587780077
VHL
0.810 GeneticVariation UNIPROT Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene. 10533030

1999
dbSNP: rs587780077
rs587780077
VHL
0.810 GeneticVariation UNIPROT Variable penetrance of familial pheochromocytoma associated with the von Hipple Lindau gene mutation, S68W. Mutations in brief no. 150. Online. 10627136

1998