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.
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.813 32 2004 2019
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.813 32 2004 2019
Childhood Acute Lymphoblastic Leukemia
261 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.871 31 2005 2019
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
502 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.870 23 2002 2018
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.857 21 2003 2019
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.857 21 2003 2019
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
45 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.762 21 2000 2018
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
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
2387 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.905 21 2004 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
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
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
2897 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.684 19 2005 2020
Male infertility
CUI: C0021364
Disease: Male infertility
146 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.688 16 2005 2019
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
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
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
652 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.833 12 2005 2014
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
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
704 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.909 11 2006 2018
Lymphoma, Non-Hodgkin
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
197 0.405 0.880 1 11794407 missense variant T/G snv 0.100 1.000 11 2003 2018
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.727 11 2004 2016
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
615 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.818 11 2005 2014