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 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 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
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 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
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
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
Anterior encephalocele
CUI: C4024948
Disease: Anterior encephalocele
5 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2017 2017
Anterior myocardial infarction
CUI: C0340293
Disease: Anterior myocardial infarction
3 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2019 2019
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
267 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2010 2010
Arthritis
CUI: C0003864
Disease: Arthritis
69 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2018 2018
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
698 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2009 2009
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
281 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2010 2010
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
331 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2013 2013
Azoospermia, Nonobstructive
CUI: C1847540
Disease: Azoospermia, Nonobstructive
22 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2011 2011
Brain Infarction
CUI: C0751955
Disease: Brain Infarction
11 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2010 2010