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.
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
41 0.827 0.200 2 127428485 missense variant G/A snv 1.2E-05 2.1E-05 0.700 1.000 1 1992 1992
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
CUI: C2676759
Disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
12 0.827 0.200 2 127428485 missense variant G/A snv 1.2E-05 2.1E-05 0.700 0
Deep Vein Thrombosis
CUI: C0149871
Disease: Deep Vein Thrombosis
93 0.827 0.200 2 127428485 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 2018 2018
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
1172 0.827 0.200 2 127428485 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 2018 2018
Protein C Deficiency
CUI: C0398625
Disease: Protein C Deficiency
14 0.827 0.200 2 127428485 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 2018 2018