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.
Cilioretinal artery (disorder)
CUI: C0423461
Disease: Cilioretinal artery (disorder)
1 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2017 2017
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
Diplegia
CUI: C0221165
Disease: Diplegia
2 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2005 2005
Low Grade Squamous Intraepithelial Neoplasia
2 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2012 2012
Lymphoblastic leukemia in children
CUI: C3826044
Disease: Lymphoblastic leukemia in children
2 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2012 2012
Neoplasms, Second Primary
CUI: C0085183
Disease: Neoplasms, Second Primary
2 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2005 2005
Orofacial cleft
CUI: C3266076
Disease: Orofacial cleft
2 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2010 2010
Very Low Birth Weight
CUI: C0282666
Disease: Very Low Birth Weight
2 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
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
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
Cervical intraepithelial neoplasia grade 2
3 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2013 2013
Colitis, Ischemic
CUI: C0162529
Disease: Colitis, Ischemic
3 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2015 2015
Gastro-esophageal reflux disease with esophagitis
3 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2012 2012
Neonatal Drug Withdrawal
CUI: C3540839
Disease: Neonatal Drug Withdrawal
3 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2010 2010
Peptic Esophagitis
CUI: C0014869
Disease: Peptic Esophagitis
3 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2012 2012
Spinocerebellar Ataxia Type 2
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
3 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2020 2020
Varicocele
CUI: C0042341
Disease: Varicocele
3 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2015 2015
Vasculogenic erectile dysfunction
CUI: C3647902
Disease: Vasculogenic erectile dysfunction
3 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2010 2010
Methylenetetrahydrofolate reductase deficiency
4 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2016 2016
Primary Malignant Liver Neoplasm
CUI: C0024620
Disease: Primary Malignant Liver Neoplasm
4 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2012 2012
Acrocyanosis
CUI: C0221347
Disease: Acrocyanosis
5 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2015 2015
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
Idiopathic Hypoparathyroidism
CUI: C0342342
Disease: Idiopathic Hypoparathyroidism
5 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2006 2006
Klinefelter's syndrome - male with more than two X chromosomes
5 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2010 2010
Paraparesis
CUI: C0221166
Disease: Paraparesis
5 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2018 2018