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.
Idiopathic Hypoparathyroidism
CUI: C0342342
Disease: Idiopathic Hypoparathyroidism
5 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2006 2006
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
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
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
425 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2010 2010
Lesion of brain
CUI: C0221505
Disease: Lesion of brain
9 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2006 2006
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
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2012 2012
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
502 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1 2011 2011
Methylenetetrahydrofolate reductase gene mutation
CUI: C3805092
Disease: 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
Mycobacterium Infections
CUI: C0026918
Disease: Mycobacterium Infections
14 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2016 2016
Myeloproliferative disease
CUI: C0027022
Disease: Myeloproliferative disease
43 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2016 2016
Neonatal thrombosis of cerebral venous sinus
CUI: C4302205
Disease: Neonatal thrombosis of cerebral venous sinus
2 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2019 2019
Nonarteritic anterior ischemic optic neuropathy (NAION)
CUI: C1852242
Disease: 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
Obesity
CUI: C0028754
Disease: Obesity
1111 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2014 2014
PAI-1 4G/5G polymorphism
CUI: C3160845
Disease: PAI-1 4G/5G polymorphism
3 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1 2011 2011
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
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
Polycythemia Vera
CUI: C0032463
Disease: Polycythemia Vera
38 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2014 2014
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
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