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.
Blood Platelet Disorders
CUI: C0005818
Disease: Blood Platelet Disorders
5 1.000 0.160 17 4933521 missense variant G/A snv 2.4E-05 1.4E-05 0.010 1.000 1 2015 2015
Congenital thrombocytopenia
CUI: C0272278
Disease: Congenital thrombocytopenia
3 1.000 0.160 17 4933521 missense variant G/A snv 2.4E-05 1.4E-05 0.010 1.000 1 2015 2015
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 1.000 0.160 17 4933521 missense variant G/A snv 2.4E-05 1.4E-05 0.010 1.000 1 2015 2015