VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Disease: Chuvash erythrocytosis ×
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: rs28940298
rs28940298 		0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04
CUI: C4749274
Disease: Chuvash erythrocytosis
Chuvash erythrocytosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.100 0.909 11 2003 2019