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.
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
Bronchopulmonary Dysplasia
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
112 0.405 0.880 1 11794407 missense variant T/G snv 0.020 2 2011 2015
Gastrointestinal mucositis
CUI: C0521585
Disease: Gastrointestinal mucositis
19 0.405 0.880 1 11794407 missense variant T/G snv 0.020 2 2014 2016
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
121 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2011 2011
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
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
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
Cerebral Infarction
CUI: C0007785
Disease: Cerebral Infarction
123 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2014 2014
Cleft lip or lips
CUI: C4321245
Disease: Cleft lip or lips
37 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2012 2012
Cleft Palate
CUI: C0008925
Disease: Cleft Palate
158 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2012 2012
Cleft palate with cleft lip
CUI: C0158646
Disease: Cleft palate with cleft lip
43 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2009 2009
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2012 2012
Cleft upper lip
CUI: C0008924
Disease: Cleft upper lip
282 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2012 2012
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
127 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2013 2013
Eclampsia
CUI: C0013537
Disease: Eclampsia
38 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2014 2014
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2015 2015
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2018 2018
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
194 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2018 2018
FRIEDREICH ATAXIA 1
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
24 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2018 2018
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
197 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2015 2015
Mental disorders
CUI: C0004936
Disease: Mental disorders
149 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2011 2011
Ovarian Failure, Premature
CUI: C0085215
Disease: Ovarian Failure, Premature
115 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2016 2016
Premature Menopause
CUI: C0025322
Disease: Premature Menopause
90 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2016 2016
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2012 2012
Vertical Talus
CUI: C0240912
Disease: Vertical Talus
20 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2013 2013