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: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.100 0.970 33 1999 2019
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.100 1.000 15 1999 2019
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.100 1.000 12 1999 2010
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.090 1.000 9 1999 2018
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis 		0.040 1.000 4 1999 2015
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		0.040 1.000 4 1999 2013
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.040 0.750 4 2002 2010
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C1260403
Disease: prothrombin gene mutation
prothrombin gene mutation 		0.040 1.000 4 1998 2012
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.040 1.000 4 2002 2009
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C2584409
Disease: Prothrombin G20210A mutation
Prothrombin G20210A mutation 		0.040 0.750 4 1999 2018
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.040 1.000 4 1999 2017
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C4552766
Disease: Miscarriage
Miscarriage 		0.040 1.000 4 2002 2016
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.030 1.000 3 1999 2016
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.030 1.000 3 2003 2017
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.030 0.667 3 1999 2005
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.030 1.000 3 2000 2013
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.020 1.000 2 1999 2018
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.020 1.000 2 2006 2013
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 1999 2018
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.020 0.500 2 2004 2009
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.020 1.000 2 1996 2018
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 1.000 2 2005 2009
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C2584620
Disease: Thrombophilia, hereditary
Thrombophilia, hereditary 		0.020 1.000 2 2001 2012
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		0.020 1.000 2 2003 2009
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0311370
Disease: Lupus anticoagulant disorder
Lupus anticoagulant disorder 		0.020 1.000 2 2009 2018