F2, coagulation factor II, thrombin, 2147

N. diseases: 490; N. variants: 42
Disease: Thrombophilia ×
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: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		Hemic and Lymphatic Diseases 0.100 0.947 19 1999 2018
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		Hemic and Lymphatic Diseases 0.100 1.000 12 1999 2010
dbSNP: rs1799963
rs1799963 		0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		Hemic and Lymphatic Diseases 0.040 1.000 4 2012 2020
dbSNP: rs552953108
rs552953108 		0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		Hemic and Lymphatic Diseases 0.020 1.000 2 1996 1999
dbSNP: rs1183194405
rs1183194405 		0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs779071898
rs779071898 		0.925 0.080 11 46739072 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017