Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28940298
rs28940298
VHL
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 		0.820 1.000 35 1993 2017
dbSNP: rs28940298
rs28940298
VHL
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 		0.800 1.000 13 1996 2011
dbSNP: rs28940298
rs28940298
VHL
0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 21 1996 2016
dbSNP: rs28940298
rs28940298
VHL
0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04
CUI: C1301357
Disease: Acute Leukemia of Ambiguous Lineage
Acute Leukemia of Ambiguous Lineage 		0.700 0
dbSNP: rs28940298
rs28940298
VHL
0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04
CUI: C4749274
Disease: Chuvash erythrocytosis
Chuvash erythrocytosis 		0.100 0.909 11 2003 2019
dbSNP: rs28940298
rs28940298
VHL
0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.030 1.000 3 2005 2014
dbSNP: rs28940298
rs28940298
VHL
0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.010 1.000 1 2014 2014
dbSNP: rs28940298
rs28940298
VHL
0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04
CUI: C0039538
Disease: Teratoma
Teratoma 		0.010 1.000 1 2004 2004
dbSNP: rs28940298
rs28940298
VHL
0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2011 2011