rs121918149, PROC

N. diseases: 3
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 0.882 0.080 2 127421438 missense variant G/A snv 5.2E-05 7.7E-05 0.700 1.000 16 1987 2015
Abnormal thrombosis
CUI: C4025731
Disease: Abnormal thrombosis
1 0.882 0.080 2 127421438 missense variant G/A snv 5.2E-05 7.7E-05 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 0.080 2 127421438 missense variant G/A snv 5.2E-05 7.7E-05 0.700 0