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: rs1553619431
rs1553619431 		0.925 0.160 3 10142109 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 43 1993 2017
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: rs397516441
rs397516441 		0.882 0.200 3 10149790 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 37 1993 2017
dbSNP: rs28940298
rs28940298 		0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.820 1.000 35 1993 2017
dbSNP: rs5030809
rs5030809 		0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.810 1.000 33 1994 2017
dbSNP: rs730882034
rs730882034 		0.925 0.160 3 10142104 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 0.810 1.000 33 1994 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: rs1553619948
rs1553619948 		0.882 0.200 3 10146528 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 32 1993 2017
dbSNP: rs267607170
rs267607170 		0.882 0.200 3 10149814 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 32 1993 2017
dbSNP: rs397516444
rs397516444 		0.882 0.200 3 10149808 missense variant 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 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: rs104893824
rs104893824 		0.776 0.320 3 10142181 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 0.810 1.000 31 1993 2017
dbSNP: rs869025636
rs869025636 		0.925 0.160 3 10142187 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 31 1993 2017
dbSNP: rs104893830
rs104893830 		0.925 0.160 3 10146561 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 29 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: rs121913346
rs121913346 		0.925 0.240 3 10149796 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 28 1993 2017
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: 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: rs5030821
rs5030821 		0.827 0.280 3 10149823 missense variant 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 0.810 1.000 26 1994 2017
dbSNP: rs104893829
rs104893829 		0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04
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 25 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