rs1188383936, F2

N. diseases: 102
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.
Arterial Occlusive Diseases
CUI: C0003838
Disease: Arterial Occlusive Diseases
4 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 1999 1999
Methylenetetrahydrofolate reductase gene mutation
3 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 1999 1999
Pregnancy associated hypertension
CUI: C0852036
Disease: Pregnancy associated hypertension
43 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 1999 1999
Vascular occlusion
CUI: C1096458
Disease: Vascular occlusion
2 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 1999 1999
Hypoplasminogenemia
CUI: C0398621
Disease: Hypoplasminogenemia
3 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2000 2000
Lupus Erythematosus
CUI: C0409974
Disease: Lupus Erythematosus
44 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2000 2000
Lupus Erythematosus, Discoid
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
46 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2000 2000
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
1172 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2000 2000
Lupus Vulgaris
CUI: C0024131
Disease: Lupus Vulgaris
44 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2000 2000
Sudden infant death syndrome
CUI: C0038644
Disease: Sudden infant death syndrome
68 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2000 2000
Gastrointestinal adenocarcinoma
CUI: C4552318
Disease: Gastrointestinal adenocarcinoma
3 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2002 2002
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
605 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2002 2002
Pulmonary Thromboembolisms
CUI: C0524702
Disease: Pulmonary Thromboembolisms
6 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1 2002 2002
Isolated thrombocytopenia
CUI: C4511035
Disease: Isolated thrombocytopenia
9 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2003 2003
Peripheral Vascular Diseases
CUI: C0085096
Disease: Peripheral Vascular Diseases
18 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2003 2003
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
363 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2003 2003
Nonarteritic anterior ischemic optic neuropathy (NAION)
6 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2004 2004
Antithrombin III Deficiency
CUI: C0272375
Disease: Antithrombin III Deficiency
52 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.020 1.000 2 2000 2005
Portal Vein Thrombosis
CUI: C0155773
Disease: Portal Vein Thrombosis
8 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.020 1.000 2 2004 2005
Protein C Deficiency
CUI: C0398625
Disease: Protein C Deficiency
14 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.020 1.000 2 1999 2005
Acquired thrombophilia
CUI: C2585317
Disease: Acquired thrombophilia
2 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2005 2005
Limb ischemia
CUI: C2945695
Disease: Limb ischemia
3 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1 2005 2005
Peripheral Arterial Diseases
CUI: C1704436
Disease: Peripheral Arterial Diseases
128 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2005 2005
SMALL PATELLA SYNDROME
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
15 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2005 2005
Sticky platelet syndrome
CUI: C2609046
Disease: Sticky platelet syndrome
2 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2005 2005