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.
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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.829 70 1999 2018
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.903 62 2002 2019
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.902 61 2002 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
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
Malignant neoplasm of colon and/or rectum
502 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.839 56 1999 2018
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
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
704 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.923 52 1999 2019
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
222 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.935 46 2001 2019
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
2897 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.841 44 1999 2019
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.976 41 2002 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
Childhood Acute Lymphoblastic Leukemia
261 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.872 39 2005 2019
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.973 37 2002 2019
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.882 34 1999 2019
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.879 33 1999 2019
Diabetes Mellitus, Non-Insulin-Dependent
2672 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.938 32 1999 2019
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
43 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.938 32 1999 2019
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
154 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.903 31 2002 2019
Migraine Disorders
CUI: C0149931
Disease: Migraine Disorders
264 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.968 31 2000 2019
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