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 0.851 0.160 2 127426114 missense variant C/T snv 7.5E-04 3.2E-04 0.700 1.000 3 1995 2014
Protein C Deficiency
CUI: C0398625
Disease: Protein C Deficiency
14 0.851 0.160 2 127426114 missense variant C/T snv 7.5E-04 3.2E-04 0.700 1.000 1 2019 2019
Pyruvate Carboxylase Deficiency Disease
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
33 0.851 0.160 2 127426114 missense variant C/T snv 7.5E-04 3.2E-04 0.010 1.000 1 2012 2012
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
43 0.851 0.160 2 127426114 missense variant C/T snv 7.5E-04 3.2E-04 0.010 1.000 1 2018 2018
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
408 0.851 0.160 2 127426114 missense variant C/T snv 7.5E-04 3.2E-04 0.010 1.000 1 2014 2014