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.
Deep Vein Thrombosis
CUI: C0149871
Disease: Deep Vein Thrombosis
93 0.882 0.120 2 127427219 missense variant C/T snv 0.700 1.000 1 2019 2019
Protein C Deficiency
CUI: C0398625
Disease: Protein C Deficiency
14 0.882 0.120 2 127427219 missense variant C/T snv 0.700 1.000 1 2019 2019
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
CUI: C2676759
Disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
12 0.882 0.120 2 127427219 missense variant C/T snv 0.700 0