Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730882035
rs730882035
VHL
0.010 GeneticVariation BEFREE We describe a Sicilian girl with type 2C VHL who showed the apparently de novo mutation R161Q in association with an extra-axial supratentorial frontal meningioma, which can be included as a characteristic sign in VHL. 17102087

2006