VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 47; N. variants: 204
Disease: Von Hippel-Lindau Syndrome ×
Source: CURATED ×
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: rs398123481
rs398123481 		1.000 0.120 3 10142103 missense variant C/G;T snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 40 1993 2017
dbSNP: rs1553619440
rs1553619440 		1.000 0.120 3 10142125 missense variant G/A;T snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 32 1993 2017
dbSNP: rs869025631
rs869025631 		1.000 0.120 3 10142179 missense variant G/A;T snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 32 1993 2017
dbSNP: rs1553620313
rs1553620313 		1.000 0.120 3 10149807 missense variant T/C snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 29 1993 2017
dbSNP: rs587780077
rs587780077 		1.000 0.120 3 10146618 missense variant G/A;C;T snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.810 1.000 27 1993 2017
dbSNP: rs104893825
rs104893825 		1.000 0.120 3 10149819 missense variant G/T snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 24 1993 2017
dbSNP: rs1352275281
rs1352275281 		1.000 0.120 3 10149815 missense variant G/C;T snv 8.0E-06
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 24 1993 2017
dbSNP: rs1553619461
rs1553619461 		1.000 0.120 3 10142160 missense variant A/C snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 24 1993 2017
dbSNP: rs193922609
rs193922609 		1.000 0.120 3 10142167 missense variant G/A;C snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 24 1993 2017
dbSNP: rs367545984
rs367545984 		1.000 0.120 3 10149879 stop gained G/A;T snv 1.6E-05
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 24 1993 2017
dbSNP: rs373068386
rs373068386 		1.000 0.120 3 10142001 stop gained G/A;T snv 6.3E-05; 1.0E-05
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 24 1993 2017
dbSNP: rs771727849
rs771727849 		1.000 0.120 3 10146608 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 24 1993 2017
dbSNP: rs869025660
rs869025660 		1.000 0.120 3 10149793 missense variant C/T snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 24 1993 2017
dbSNP: rs1553619956
rs1553619956 		1.000 0.120 3 10146555 missense variant C/T snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 17 1993 2006
dbSNP: rs5030802
rs5030802 		1.000 0.120 3 10142055 stop gained G/A;T snv 4.4E-06
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.810 1.000 11 1998 2017
dbSNP: rs727504215
rs727504215 		1.000 0.120 3 10146524 stop gained G/A;T snv 4.0E-06
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 9 1995 2017
dbSNP: rs5030817
rs5030817 		1.000 0.120 3 10149786 splice acceptor variant G/A;C;T snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 8 1994 2007
dbSNP: rs864622646
rs864622646 		1.000 0.120 3 10146518 missense variant C/A;G;T snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 8 1995 2015
dbSNP: rs377715747
rs377715747 		1.000 0.120 3 10149861 missense variant A/G snv 8.0E-06 1.4E-05
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 7 2004 2017
dbSNP: rs5030803
rs5030803 		1.000 0.120 3 10142068 missense variant T/A;C;G snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 7 2004 2017
dbSNP: rs730882033
rs730882033 		1.000 0.120 3 10142074 missense variant T/A;C;G snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 7 2004 2017
dbSNP: rs765978945
rs765978945 		1.000 0.120 3 10142180 missense variant C/G;T snv 4.5E-06
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 7 2004 2017
dbSNP: rs869025659
rs869025659 		1.000 0.120 3 10146636 missense variant G/A snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 7 2004 2017
dbSNP: rs5030835
rs5030835 		1.000 0.120 3 10149848 stop gained C/G snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 6 1995 2008
dbSNP: rs1347416980
rs1347416980 		1.000 0.120 3 10146568 missense variant A/C;G snv 4.0E-06
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 5 1999 2009