VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Disease: Cerebellar hemangioblastoma ×
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: rs119103277
rs119103277 		0.925 0.160 3 10142110 stop gained G/A;C snv
CUI: C1332900
Disease: Cerebellar hemangioblastoma
Cerebellar hemangioblastoma 		Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs119103278
rs119103278 		1.000 0.080 3 10146578 missense variant A/C snv
CUI: C1332900
Disease: Cerebellar hemangioblastoma
Cerebellar hemangioblastoma 		Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs5030826
rs5030826 		0.827 0.200 3 10142041 stop gained C/A;G;T snv
CUI: C1332900
Disease: Cerebellar hemangioblastoma
Cerebellar hemangioblastoma 		Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs869025667
rs869025667 		0.827 0.200 3 10149916 missense variant T/C snv
CUI: C1332900
Disease: Cerebellar hemangioblastoma
Cerebellar hemangioblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2000 2000