rs397507444, MTHFR

N. diseases: 306
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.
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
122 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.667 21 1999 2019
Deep Vein Thrombosis
CUI: C0149871
Disease: Deep Vein Thrombosis
93 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.889 9 1999 2020
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
46 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 1999 2012
Vascular Diseases
CUI: C0042373
Disease: Vascular Diseases
40 0.405 0.880 1 11794407 missense variant T/G snv 0.040 1.000 4 1999 2007
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
45 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.762 21 2000 2018
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.917 12 2000 2019
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
238 0.405 0.880 1 11794407 missense variant T/G snv 0.100 1.000 11 2000 2019
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
2672 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.889 9 2000 2017
Spina Bifida
CUI: C0080178
Disease: Spina Bifida
61 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2000 2003
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
222 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.943 35 2001 2019
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.895 19 2001 2018
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
1577 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.800 15 2001 2020
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.667 9 2001 2018
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.667 9 2001 2018
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.667 9 2001 2018
Fetal Growth Retardation
CUI: C0015934
Disease: Fetal Growth Retardation
21 0.405 0.880 1 11794407 missense variant T/G snv 0.030 0.667 3 2001 2019
leukemia
CUI: C0023418
Disease: leukemia
144 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2001 2006
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.806 31 2002 2019
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
154 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.931 29 2002 2019
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.405 0.880 1 11794407 missense variant T/G snv 0.100 1.000 24 2002 2018
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
502 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.870 23 2002 2018
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.405 0.880 1 11794407 missense variant T/G snv 0.100 1.000 20 2002 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.900 10 2002 2016
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
440 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.889 9 2002 2017
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.405 0.880 1 11794407 missense variant T/G snv 0.070 0.714 7 2002 2017