VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Disease: Polycythemia ×
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: C0032461
Disease: Polycythemia
Polycythemia 		Hemic and Lymphatic Diseases 0.030 1.000 3 2005 2014
dbSNP: rs28940301
rs28940301 		0.925 0.040 3 10149894 missense variant C/G snv
CUI: C0032461
Disease: Polycythemia
Polycythemia 		Hemic and Lymphatic Diseases 0.020 1.000 2 2013 2014
dbSNP: rs104893831
rs104893831 		0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05
CUI: C0032461
Disease: Polycythemia
Polycythemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs200885420
rs200885420 		1.000 0.040 3 10142082 missense variant C/G;T snv 2.2E-05
CUI: C0032461
Disease: Polycythemia
Polycythemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs5030824
rs5030824 		0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05
CUI: C0032461
Disease: Polycythemia
Polycythemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs780178275
rs780178275 		0.851 0.200 3 10146586 missense variant C/T snv 8.0E-06
CUI: C0032461
Disease: Polycythemia
Polycythemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs869025650
rs869025650 		0.882 0.160 3 10146603 stop gained G/A;C;T snv 4.0E-06
CUI: C0032461
Disease: Polycythemia
Polycythemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005