Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387907201
rs387907201
F2
1.000 0.080 11 46739326 missense variant G/A;T snv
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
THROMBOPHILIA DUE TO THROMBIN DEFECT 		0.700 0
dbSNP: rs387907201
rs387907201
F2
1.000 0.080 11 46739326 missense variant G/A;T snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.020 1.000 2 2016 2018
dbSNP: rs387907201
rs387907201
F2
1.000 0.080 11 46739326 missense variant G/A;T snv
CUI: C0272317
Disease: Hereditary factor II deficiency disease
Hereditary factor II deficiency disease 		0.010 1.000 1 2018 2018
dbSNP: rs387907201
rs387907201
F2
1.000 0.080 11 46739326 missense variant G/A;T snv
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.010 1.000 1 2018 2018