rs1217691063, MTHFR

N. diseases: 614
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.
Spina Bifida
CUI: C0080178
Disease: Spina Bifida
61 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.938 16 1995 2014
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
45 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.936 156 1996 2019
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
46 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.932 59 1996 2019
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.942 52 1996 2019
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
680 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.870 23 1996 2019
Anencephaly
CUI: C0002902
Disease: Anencephaly
10 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 1996 2015
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
1577 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.914 70 1997 2017
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
122 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.882 68 1997 2019
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.922 64 1997 2019
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
440 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.950 40 1997 2016
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
408 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.903 31 1997 2015
Deep Vein Thrombosis
CUI: C0149871
Disease: Deep Vein Thrombosis
93 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.952 21 1997 2019
Homocysteinemia
CUI: C3495426
Disease: Homocysteinemia
6 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.090 1.000 9 1997 2013
Vitamin B 12 Deficiency
CUI: C0042847
Disease: Vitamin B 12 Deficiency
11 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 1.000 8 1997 2018
Anemia
CUI: C0002871
Disease: Anemia
94 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 1997 2018
Anemia, Megaloblastic
CUI: C0002888
Disease: Anemia, Megaloblastic
2 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1997 1997
Arakawa syndrome 2
CUI: C0268611
Disease: Arakawa syndrome 2
1 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1997 1997
Methylcobalamin Deficiency, CblG Type
9 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1997 1997
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
39 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1997 1997
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
591 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.914 58 1998 2018
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.862 29 1998 2019
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
138 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 12 1998 2019
Retinal Vein Occlusion
CUI: C0035328
Disease: Retinal Vein Occlusion
15 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.090 0.667 9 1998 2019
Cleft Lip with or without Cleft Palate
50 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 0.800 5 1998 2016
Cleft lip or lips
CUI: C4321245
Disease: Cleft lip or lips
37 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 1998 2019