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: rs28940298
rs28940298 		0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.800 1.000 13 1996 2011
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: rs104893830
rs104893830 		0.925 0.160 3 10146561 missense variant G/C;T snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.800 1.000 3 2003 2012
dbSNP: rs104893831
rs104893831 		0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.800 1.000 3 2003 2012
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: 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: rs869025650
rs869025650 		0.882 0.160 3 10146603 stop gained G/A;C;T snv 4.0E-06
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 15 1998 2014
dbSNP: rs869025652
rs869025652 		0.925 0.160 3 10146608 frameshift variant GC/- del
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 15 1994 2014
dbSNP: rs5030821
rs5030821 		0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 14 1994 2012
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: 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: rs1553619431
rs1553619431 		0.925 0.160 3 10142109 missense variant T/A;C snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 10 1995 2016
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: 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: rs5030809
rs5030809 		0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 9 1995 2014
dbSNP: rs5030814
rs5030814 		0.925 0.160 3 10146638 splice donor variant T/C;G snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 9 1996 2014
dbSNP: rs730882035
rs730882035 		0.807 0.200 3 10149805 missense variant G/A snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 9 1995 2014
dbSNP: rs869025636
rs869025636 		0.925 0.160 3 10142187 missense variant G/A;C snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 9 1994 2016
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: 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: 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: 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: rs1553619948
rs1553619948 		0.882 0.200 3 10146528 missense variant T/C snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 4 2005 2013
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: rs5030648
rs5030648 		0.925 0.160 3 10142071 inframe deletion TCT/- delins
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 4 2002 2016