rs104893831, VHL

N. diseases: 4
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.
ERYTHROCYTOSIS, FAMILIAL, 2
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
54 0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05 0.800 1.000 3 2003 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05 0.700 1.000 3 2011 2014
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05 0.010 1.000 1 2014 2014
Polycythemia
CUI: C0032461
Disease: Polycythemia
22 0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05 0.010 1.000 1 2014 2014