F2, coagulation factor II, thrombin, 2147

N. diseases: 490; N. variants: 42
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1799963
rs1799963 		0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
THROMBOPHILIA DUE TO THROMBIN DEFECT 		0.700 1.000 14 1986 2013
dbSNP: rs387907201
rs387907201 		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