VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Disease: ERYTHROCYTOSIS, FAMILIAL, 2 ×
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: rs1553619976
rs1553619976 		0.925 0.160 3 10146593 frameshift variant -/A delins
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs398123483
rs398123483 		0.925 0.160 3 10149824 frameshift variant -/TTGTCCGT ins 4.0E-06
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 2 1993 1995
dbSNP: rs794727253
rs794727253 		0.925 0.160 3 10146621 frameshift variant A/- delins
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs730882020
rs730882020 		0.925 0.160 3 10149798 frameshift variant A/-;AA delins
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 4 1976 2004
dbSNP: rs5030804
rs5030804 		0.925 0.160 3 10142080 missense variant A/C;G;T snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs5030832
rs5030832 		0.925 0.160 3 10146535 missense variant A/G snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 12 1994 2015
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: rs1559428091
rs1559428091 		0.925 0.160 3 10146543 missense variant A/G snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 2 2003 2013
dbSNP: rs869025648
rs869025648 		0.851 0.240 3 10146587 synonymous variant A/G snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1559426203
rs1559426203 		0.925 0.160 3 10142178 missense variant A/G;T snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 10 1995 2016
dbSNP: rs193922613
rs193922613 		0.925 0.160 3 10149847 missense variant A/G;T snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 2 2004 2013
dbSNP: rs5030816
rs5030816 		0.925 0.160 3 10149785 splice acceptor variant A/G;T snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs869025644
rs869025644 		0.925 0.160 3 10146543 frameshift variant AC/- delins
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs864622545
rs864622545 		0.925 0.160 3 10142103 frameshift variant C/-;CC delins
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs5030622
rs5030622 		0.925 0.160 3 10149809 stop gained C/A;G snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 4 1999 2007
dbSNP: rs5030823
rs5030823 		0.851 0.280 3 10149871 stop gained C/A;G;T snv 4.0E-06
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 3 1996 2001
dbSNP: rs5030810
rs5030810 		0.925 0.160 3 10142184 stop gained C/A;T snv 4.6E-06
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs5030824
rs5030824 		0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.800 1.000 10 1994 2013
dbSNP: rs1559428077
rs1559428077 		0.925 0.160 3 10146530 missense variant C/G snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 3 2009 2013
dbSNP: rs28940301
rs28940301 		0.925 0.040 3 10149894 missense variant C/G snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.800 1.000 3 2003 2012
dbSNP: rs1559429613
rs1559429613 		0.925 0.160 3 10149795 missense variant C/G snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 2 2000 2004
dbSNP: rs5030818
rs5030818 		0.882 0.280 3 10149804 stop gained C/G;T snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 17 1994 2014
dbSNP: rs5030820
rs5030820 		0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 13 1994 2015
dbSNP: rs730882034
rs730882034 		0.925 0.160 3 10142104 missense variant C/G;T snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 10 1998 2016
dbSNP: rs5030819
rs5030819 		0.925 0.160 3 10149813 stop gained C/G;T snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 4 1996 2016