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.
Secondary polycythemia
CUI: C1318533
Disease: Secondary polycythemia
5 0.846 0.143 3 10146586 missense variant C/T snp 8.0E-06 0.010 1.000 1 2013 2013
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
130 0.846 0.143 3 10146586 missense variant C/T snp 8.0E-06 0.010 1.000 1 2013 2013
Polycythemia Vera
CUI: C0032463
Disease: Polycythemia Vera
22 0.846 0.143 3 10146586 missense variant C/T snp 8.0E-06 0.010 1.000 1 2013 2013
Polycythemia
CUI: C0032461
Disease: Polycythemia
17 0.846 0.143 3 10146586 missense variant C/T snp 8.0E-06 0.010 1.000 1 2013 2013