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 Willebrand disease, platelet type
CUI: C1280798
Disease: Von Willebrand disease, platelet type
2 1.000 0.080 17 4933367 missense variant A/G snv 0.820 1.000 6 1991 2019
Impaired ristocetin-induced platelet aggregation
CUI: C4023154
Disease: Impaired ristocetin-induced platelet aggregation
1 1.000 0.080 17 4933367 missense variant A/G snv 0.700 1.000 1 2019 2019
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 1.000 0.080 17 4933367 missense variant A/G snv 0.700 1.000 1 2019 2019