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: C0027651
Disease:
Neoplasms
0.030 GeneticVariation BEFREE MTHFD1 G1958A polymorphism was not associated with increased risk of this disease; the evaluation results of the MTHFR A1298C polymorphism in this neoplasm were contradictory. 22392251 2012
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0018798
Disease:
Congenital Heart Defects
0.030 GeneticVariation BEFREE Relationship of the MTHFD1 (rs2236225), eNOS (rs1799983), CBS (rs2850144) and ACE (rs4343) gene polymorphisms in a population of Iranian pediatric patients with congenital heart defects. 28865601 2017
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0018798
Disease:
Congenital Heart Defects
0.030 GeneticVariation BEFREE The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects. 18767138 2009
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0000768
Disease:
Congenital Abnormality
0.030 GeneticVariation BEFREE A polymorphism in methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), R653Q (MTHFD1 c.1958 G > A), has also been associated with increased birth defect risk, likely through reduced purine synthesis. 29659962 2018
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: C0013080
Disease:
Down Syndrome
0.020 GeneticVariation BEFREE The role of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) G1958A and betaine-homocysteine methyltransferase (BHMT) G742A polymorphisms in DS risk was investigated. 22339736 2012
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0036341
Disease:
Schizophrenia
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: 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: 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: C4521042
Disease:
Complete Trisomy 21 Syndrome
0.020 GeneticVariation BEFREE In conclusion, our meta-analysis suggested that the MTRR c.66A>G (rs1801394) polymorphism and MTHFD1 c.1958G>A (rs2236225) were associated with increased maternal risk for DS. 25544792 2014
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0149931
Disease:
Migraine Disorders
0.020 GeneticVariation BEFREE We find no evidence for association of the MTHFD1 R134K and R653Q polymorphisms with migraine in our Australian case-control population. 25039261 2014
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: C0149931
Disease:
Migraine Disorders
0.020 GeneticVariation BEFREE Thymidylate synthase promoter tandem repeat and MTHFD1 R653Q polymorphisms modulate the risk for migraine conferred by the MTHFR T677 allele. 15953655 2005
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0036341
Disease:
Schizophrenia
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: C4521042
Disease:
Complete Trisomy 21 Syndrome
0.020 GeneticVariation BEFREE The role of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) G1958A and betaine-homocysteine methyltransferase (BHMT) G742A polymorphisms in DS risk was investigated. 22339736 2012
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: C0013080
Disease:
Down Syndrome
0.020 GeneticVariation BEFREE In conclusion, our meta-analysis suggested that the MTRR c.66A>G (rs1801394) polymorphism and MTHFD1 c.1958G>A (rs2236225) were associated with increased maternal risk for DS. 25544792 2014
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.020 GeneticVariation BEFREE These findings may have implications for CRC tumor growth and prognosis in individuals with the R653Q variant.© 2016 Wiley Periodicals, Inc. 27597531 2017
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.020 GeneticVariation BEFREE We examined whether polymorphisms in these genes, i.e., cSHMT L474F, MTHFD1 R653Q and GCPII H475Y, modify the risk of CRC in the prospective Physicians' Health Study. 15122597 2004
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: 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: 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