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.
5,10-Methylenetetrahydrofolate reductase deficiency
6 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2008 2008
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
121 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2011 2011
Acrocyanosis
CUI: C0221347
Disease: Acrocyanosis
5 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2015 2015
Activated Protein C Resistance
CUI: C0600433
Disease: Activated Protein C Resistance
30 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2010 2010
Acute leukemia
CUI: C0085669
Disease: Acute leukemia
50 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2007 2012
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
Acute myocardial infarction
CUI: C0155626
Disease: Acute myocardial infarction
118 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2019 2019
Acute myocardial ischemia
CUI: C0746731
Disease: Acute myocardial ischemia
2 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2019 2019
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
168 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2014 2018
Adenocarcinoma Of Esophagus
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
81 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2012 2012
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2018 2018
Adenoma
CUI: C0001430
Disease: Adenoma
103 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2008 2008
Adenoma of large intestine
CUI: C1302401
Disease: Adenoma of large intestine
213 0.405 0.880 1 11794407 missense variant T/G snv 0.040 1.000 4 2003 2007
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
adult chronic myelogenous leukemia
CUI: C4733577
Disease: adult chronic myelogenous leukemia
3 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2014 2014
Adult Liver Carcinoma
CUI: C0220630
Disease: Adult Liver Carcinoma
72 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2014 2014
Adult Lymphoma
CUI: C1332206
Disease: Adult Lymphoma
66 0.405 0.880 1 11794407 missense variant T/G snv 0.040 1.000 4 2004 2017
Adult Meningioma
CUI: C0278877
Disease: Adult Meningioma
30 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2017 2017
Adult Non-Hodgkin Lymphoma
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
39 0.405 0.880 1 11794407 missense variant T/G snv 0.060 1.000 6 2007 2018
Allergic rhinitis (disorder)
CUI: C2607914
Disease: Allergic rhinitis (disorder)
176 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2016 2016
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
243 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2019 2019
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
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
176 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2006 2017
Anemia
CUI: C0002871
Disease: Anemia
94 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2009 2009
Angle Closure Glaucoma
CUI: C0017605
Disease: Angle Closure Glaucoma
56 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2009 2009