VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Disease: Paraganglioma ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1064794272
rs1064794272 		0.807 0.240 3 10146566 missense variant C/A snv
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		Neoplasms 0.010 1.000 1 2011 2011