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.
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
Atherothrombosis
CUI: C1963943
Disease: Atherothrombosis
15 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2009 2014
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2011 2012
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
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2009 2019
Azoospermia
CUI: C0004509
Disease: Azoospermia
70 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2012 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
Behcet Syndrome
CUI: C0004943
Disease: Behcet Syndrome
243 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2013 2019
Bipolar Disorder
CUI: C0005586
Disease: Bipolar Disorder
839 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2007 2008
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
281 0.405 0.880 1 11794407 missense variant T/G snv 0.080 1.000 8 2005 2013
Borderline Personality Disorder
CUI: C0006012
Disease: Borderline Personality Disorder
82 0.405 0.880 1 11794407 missense variant T/G snv 0.020 2 2011 2015
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
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
Bronchopulmonary Dysplasia
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
112 0.405 0.880 1 11794407 missense variant T/G snv 0.020 2 2011 2015
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.800 5 2006 2013
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
309 0.405 0.880 1 11794407 missense variant T/G snv 0.080 1.000 8 2005 2013
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
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
91 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2007 2007
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
327 0.405 0.880 1 11794407 missense variant T/G snv 0.040 0.250 4 2010 2015
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