rs28940298, VHL

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
187 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.820 1.000 35 1993 2017
ERYTHROCYTOSIS, FAMILIAL, 2
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
54 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.800 1.000 13 1996 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.700 1.000 21 1996 2016
Acute Leukemia of Ambiguous Lineage
CUI: C1301357
Disease: Acute Leukemia of Ambiguous Lineage
1 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.700 0
Chuvash erythrocytosis
CUI: C4749274
Disease: Chuvash erythrocytosis
2 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.100 0.909 11 2003 2019
Polycythemia
CUI: C0032461
Disease: Polycythemia
22 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.030 1.000 3 2005 2014
Anemia
CUI: C0002871
Disease: Anemia
94 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.010 1.000 1 2011 2011
Iron deficiency
CUI: C0240066
Disease: Iron deficiency
13 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.010 1.000 1 2014 2014
Teratoma
CUI: C0039538
Disease: Teratoma
8 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.010 1.000 1 2004 2004