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: rs5030820
rs5030820 		0.827 0.280 3 10149822 missense variant C/G;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 28 1994 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: 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: rs5030832
rs5030832 		0.925 0.160 3 10146535 missense variant A/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 0.800 1.000 21 1994 2017
dbSNP: rs5030818
rs5030818 		0.882 0.280 3 10149804 stop gained 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 18 1994 2014
dbSNP: rs794726890
rs794726890 		0.925 0.160 3 10142092 missense variant G/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 18 2000 2017
dbSNP: rs5030833
rs5030833 		0.925 0.160 3 10146580 missense variant T/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 0.800 1.000 17 1994 2017
dbSNP: rs5030827
rs5030827 		0.882 0.200 3 10142097 missense variant G/A;C;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 0.800 1.000 16 1995 2017
dbSNP: rs5030826
rs5030826 		0.827 0.200 3 10142041 stop gained 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 0.800 1.000 14 1994 2017
dbSNP: rs5030808
rs5030808 		0.882 0.200 3 10142124 missense variant G/A;C;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 11 1996 2017
dbSNP: rs5030822
rs5030822 		0.925 0.160 3 10149856 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 0.800 1.000 11 2004 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: rs5030830
rs5030830 		0.925 0.160 3 10146526 missense variant T/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 0.800 1.000 8 1998 2017
dbSNP: rs5030807
rs5030807 		0.851 0.320 3 10142113 missense variant T/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 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: rs1064794272
rs1064794272 		0.807 0.240 3 10146566 missense variant C/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 0.720 1.000 17 1993 2011
dbSNP: rs5030812
rs5030812 		1.000 0.120 3 10146517 missense variant 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 0.710 1.000 0 2008 2008
dbSNP: rs869025648
rs869025648 		0.851 0.240 3 10146587 synonymous variant A/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 0.710 1.000 0 2019 2019
dbSNP: rs869025667
rs869025667 		0.827 0.200 3 10149916 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 0.710 1.000 0 2014 2014
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