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: 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: 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: rs1559426203
rs1559426203 		0.925 0.160 3 10142178 missense variant 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 17 1994 2017
dbSNP: rs869025650
rs869025650 		0.882 0.160 3 10146603 stop gained G/A;C;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 0.700 1.000 15 1998 2014
dbSNP: rs869025652
rs869025652 		0.925 0.160 3 10146608 frameshift variant GC/- del
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 15 1994 2014
dbSNP: rs869025655
rs869025655 		0.925 0.160 3 10146625 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 0.700 1.000 12 1999 2018
dbSNP: rs5030814
rs5030814 		0.925 0.160 3 10146638 splice donor 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 0.700 1.000 10 1996 2014
dbSNP: rs869025622
rs869025622 		0.925 0.160 3 10142111 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 0.700 1.000 10 1995 2016
dbSNP: rs104893826
rs104893826 		0.882 0.200 3 10142038 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 0.700 1.000 8 1998 2014
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: 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
dbSNP: rs397516442
rs397516442 		1.000 0.120 3 10146579 frameshift variant T/- delins
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 2011
dbSNP: rs397516440
rs397516440 		0.851 0.280 3 10142166 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 0.700 1.000 4 2002 2013
dbSNP: rs5030622
rs5030622 		0.925 0.160 3 10149809 stop gained C/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 0.700 1.000 4 1999 2007
dbSNP: rs5030648
rs5030648 		0.925 0.160 3 10142071 inframe deletion TCT/- delins
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 4 2002 2016
dbSNP: rs5030819
rs5030819 		0.925 0.160 3 10149813 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 0.700 1.000 4 1996 2016
dbSNP: rs730882020
rs730882020 		0.925 0.160 3 10149798 frameshift variant A/-;AA delins
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 4 1976 2004