Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0268615
Disease:
5,10-Methylenetetrahydrofolate reductase deficiency
0.010 GeneticVariation BEFREE Greater increases in Hcy concentration during AEDs treatment appear to occur in individuals with the MTHFR CT (C677T) and MTHFD1 GG (G1958A) genotypes. 21543238 2011
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE The results suggest that MTHFD1 G1958A polymorphism might be associated with a decreased risk of ALL and other cancers. 23894459 2013
dbSNP: rs1076991
rs1076991
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0155626
Disease:
Acute myocardial infarction
0.020 GeneticVariation BEFREE Similarly, low plasma glycine showed stronger risk relationship with AMI</span> in the rs1076991 CC genotype carriers but weaker associations in patients carrying the minor T allele (P<sub>interaction</sub>=0.02). 27872106 2016
dbSNP: rs1076991
rs1076991
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0155626
Disease:
Acute myocardial infarction
0.020 GeneticVariation BEFREE We explored the association between a MTHFD1 polymorphism (rs1076991 C > T) and acute myocardial infarction (AMI), and potential effect modifications by folic acid/B12 and/or vitamin B6 treatment in suspected stable angina pectoris patients (n = 2381) participating in the randomized Western Norway B Vitamin Intervention Trial (WENBIT). 26803590 2016
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0155626
Disease:
Acute myocardial infarction
0.010 GeneticVariation BEFREE Associations of plasma serine and glycine concentrations with risk of AMI</span> across 2 common and functional MTHFD1 polymorphisms (rs2236225 and rs1076991) were explored in Cox regression models. 27872106 2016
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0751606
Disease:
Adult Acute Lymphocytic Leukemia
0.010 GeneticVariation BEFREE The results suggest that MTHFD1 G1958A polymorphism might be associated with a decreased risk of ALL and other cancers. 23894459 2013
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0002395
Disease:
Alzheimer's Disease
0.020 GeneticVariation BEFREE When stratified by age/at onset age, we found that A allele and AA genotype frequencies in cases were higher than in controls and the differences were close to significant [A vs. G, P = 0.032, Odds ratio (OR) 1.642, 95% CI 1.040-2.591; AA + GA vs. GG, P = 0.068, OR 1.665, 95% CI 0.961-2.885; AA vs. GG, P = 0.059, OR 3.458, 95% CI 0.894-13.369] in <65 years groups, which suggested that the MTHFD1 G1958A A allele might be a weak risk factor for early onset AD although it needs further confirmation. 20217437 2010
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0002395
Disease:
Alzheimer's Disease
0.020 GeneticVariation BEFREE In AD there were significant differences of the levels of only Cys (GG, MTHFR, G1793A) and Met/Hcy (AA, MTHFD1, G1958A) whereas in PD there were more significant differences of the levels of thiols: Hcy [MTHFR: CT (C677T) and GG (G1793A); MTR, AG (A2756G)], Met [MTR, AA (A2756G)], Cys [MTR, AG (A2756G)], and Met/Hcy [MTHFR: CC, CT (C677T) and AA (A1298C), and GG (G1793A); MTHFD1 AA(G1958A); MTR AA(A2756G)]. 17691219 2007
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0002902
Disease:
Anencephaly
0.010 GeneticVariation BEFREE In the case-control study, those with the MTHFD1 G1958A variant were associated with around twofold risk of anencephaly (p=0.01) and spina bifida (p<0.01). 26394717 2016
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4024948
Disease:
Anterior encephalocele
0.010 GeneticVariation BEFREE This case-control study investigated the interactions of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-1958G>A (rs2236225) and the methylenetetrahydrofolate reductase (MTHFR) - 677C>T (rs1801133) and 1298A>C (rs1801131) polymorphisms with the risk of AE in the Northeast Indian population. 28398708 2017
dbSNP: rs8003379
rs8003379
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0162871
Disease:
Aortic Aneurysm, Abdominal
0.010 GeneticVariation BEFREE At the multiple logistic regression analysis adjusted for traditional cardiovascular risk factors (sex, age, hypertension, smoking habit, dyslipidaemia, diabetes) and chronic obstructive pulmonary disease (COPD), rs8003379 MTHFD1 (odds ratio (OR) 0.41, 95% confidence interval (CI) 0.26 to 0.65) and rs326118 MTRR (OR 0.47, 95% CI 0.29 to 0.77) polymorphisms resulted in independent susceptibility factor for AAA. 18635682 2008
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder
0.020 GeneticVariation BEFREE We hypothesized that ADHD related cognitive deficit could be attributed to abnormalities in the folate cycle and explored functional single nucleotide polymorphisms in methylenetetrahydrofolate dehydrogenase (rs2236225), reduced folate carrier (rs1051266), and methylenetetrahydrofolate reductase (rs1801131 and rs1801133) in families with ADHD probands (N = 185) and ethnically matched controls (N = 216) recruited following the DSM-IV. 25079255 2014
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder
0.020 GeneticVariation BEFREE Functional gene variants in MTR (rs1805087), CBS (rs5742905), MTHFR (rs1801133 &rs1801131), MTHFD (rs2236225), RFC1 (rs1051266), plasma vitamin B12, folate and homocysteine were analyzed. rs1805087 'A' showed strong association with ADHD. 28250422 2017
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0005586
Disease:
Bipolar Disorder
0.020 GeneticVariation BEFREE In people, a single nucleotide polymorphism of this gene (1958G>A; rs2236225) is associated with increased risk for bipolar disorder and schizophrenia, neural tube and other birth defects. 28559181 2017
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0005586
Disease:
Bipolar Disorder
0.020 GeneticVariation BEFREE MTHFD 1958G>A and MTR 2756A>G polymorphisms are associated with bipolar disorder and schizophrenia. 17417062 2007
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Our findings provide evidence for associations of breast cancer survival with folate-related SNPs in a population of Western Siberian region of Russia and the MTHFD1 (1958G>A) may have additional prognostic value especially among premenopausal patients. 23296054 2013
dbSNP: rs1950902
rs1950902
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial
0.010 GeneticVariation BEFREE Lack of association between MTHFD1 G401A polymorphism and ovarian cancer susceptibility. 24287951 2014
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia
0.020 GeneticVariation BEFREE In total, 167 children with ALL were genotyped for methylenetetrahydrofolate dehydrogenase (MTHFD1) 1958G > A, methylenetetrahydrofolate reductase (MTHFR) 677C > T and 1298A > C and thymidylate synthase (TYMS) 2R > 3R polymorphisms. 22074251 2012
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia
0.020 GeneticVariation BEFREE The results suggest that MTHFD1 G1958A polymorphism might be associated with a decreased risk of ALL and other cancers. 23894459 2013
dbSNP: rs1076991
rs1076991
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia
0.010 GeneticVariation BEFREE The genotype distribution of the MTHFD1 rs1076991 differed significantly between the ALL and control population. 23940529 2013
dbSNP: rs8003379
rs8003379
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.010 GeneticVariation BEFREE At the multiple logistic regression analysis adjusted for traditional cardiovascular risk factors (sex, age, hypertension, smoking habit, dyslipidaemia, diabetes) and chronic obstructive pulmonary disease (COPD), rs8003379 MTHFD1 (odds ratio (OR) 0.41, 95% confidence interval (CI) 0.26 to 0.65) and rs326118 MTRR (OR 0.47, 95% CI 0.29 to 0.77) polymorphisms resulted in independent susceptibility factor for AAA. 18635682 2008
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0810364
Disease:
Cleft Lip with or without Cleft Palate
0.010 GeneticVariation BEFREE Associations were found for both CPO and CLP and MTHFD1 1958 G-->A in cases and case mothers. 18661527 2008
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0158646
Disease:
Cleft palate with cleft lip
0.010 GeneticVariation BEFREE Significant association of MTHFD1 1958G>A single nucleotide polymorphism with nonsyndromic cleft lip and palate in Indian population. 25129243 2014
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0009241
Disease:
Cognition Disorders
0.010 GeneticVariation BEFREE We hypothesized that ADHD related cognitive deficit could be attributed to abnormalities in the folate cycle and explored functional single nucleotide polymorphisms in methylenetetrahydrofolate dehydrogenase (rs2236225), reduced folate carrier (rs1051266), and methylenetetrahydrofolate reductase (rs1801131 and rs1801133) in families with ADHD probands (N = 185) and ethnically matched controls (N = 216) recruited following the DSM-IV. 25079255 2014
dbSNP: rs1950902
rs1950902
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE Meanwhile, the MTHFD1 G401A might play a protective role in the development of colon cancer. 23894459 2013