VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
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: rs104893826
rs104893826 		0.882 0.200 3 10142038 missense variant G/A;C snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 8 1998 2014
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: rs119103277
rs119103277 		0.925 0.160 3 10142110 stop gained 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 0.810 0.875 8 2004 2017
dbSNP: rs5030805
rs5030805 		0.790 0.280 3 10142086 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 0.810 0.875 8 2004 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: 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: 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: rs104893826
rs104893826 		0.882 0.200 3 10142038 missense variant G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 7 1998 2014
dbSNP: rs193922613
rs193922613 		0.925 0.160 3 10149847 missense variant A/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 7 2004 2014
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: 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: 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: rs794726890
rs794726890 		0.925 0.160 3 10142092 missense variant G/C;T snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 7 2000 2016
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: rs397516441
rs397516441 		0.882 0.200 3 10149790 missense variant A/G snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 6 2002 2010
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: rs730882034
rs730882034 		0.925 0.160 3 10142104 missense variant C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 1995 2016
dbSNP: rs786202787
rs786202787 		1.000 0.120 3 10142085 missense variant A/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 1997 2014
dbSNP: rs104893830
rs104893830 		0.925 0.160 3 10146561 missense variant G/C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 1996 2014
dbSNP: rs1553620318
rs1553620318 		3 10149810 missense variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2004 2016
dbSNP: rs193922609
rs193922609 		1.000 0.120 3 10142167 missense variant G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 1998 2012
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: rs864622109
rs864622109 		1.000 0.120 3 10149878 stop gained C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 1994 2013
dbSNP: rs869025622
rs869025622 		0.925 0.160 3 10142111 missense variant G/C;T snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 5 1995 2011
dbSNP: rs1131690962
rs1131690962 		3 10149829 missense variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2000 2015