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: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE We investigated this SNP as a potential risk factor for NTDs in a large homogenous Irish population and determined that it is not an independent risk factor, but, it does increase both case (chi (2) = 11.06, P = 0.001) and maternal (chi (2) = 6.68, P = 0.01) risk when allele frequencies were analysed in combination with the previously identified disease-associated p.R653Q (c.1958 G > A; dbSNP rs2236225) polymorphism. 19130090 2009
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE For MTHFD1 rs2236225 polymorphism, mothers having GA genotype and A allele exhibited an increased risk of NTDs in the offspring (OR = 2.600, 95%CI: 1.227-5.529; OR = 1.847, 95%CI: 1.047-3.259). 30867013 2019
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE We have established that the MTHFD1 1958G>A polymorphism has a significant role in influencing a mother's risk of having an NTD-affected pregnancy in the Irish population. 16552426 2006
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE A common variant in MTHFD1, p.Arg653Gln (c.1958G>A), may increase the risk for neural tube defects (NTD). 18767138 2009
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE However, there was no significant association between the MTHFD1 G1958A polymorphism in NTD patients and the risk of NTD. 25502174 2015
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE Our analysis implicated that MTHFD1 1958G>A was significantly associated with the susceptibility of NTD in a Chinese population. 25524527 2015
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE The ten strongest association signals (p-value range: 0.0003-0.0023) were found in nine genes (MFTC, CDKN2A, ADA, PEMT, CUBN, GART, DNMT3A, MTHFD1 and T (Brachyury)) and included the known NTD risk factor MTHFD1 R653Q (rs2236225). 22856873 2012
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE A common variant in MTHFD1, p.Arg653Gln (c.1958G>A), may increase the risk for neural tube defects (NTD). 18767138 2009
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE In summary, our meta-analysis strongly suggests that the MTHFD1 G1958A polymorphism might be associated with maternal risk for NTDs in Caucasian populations. 24977710 2014
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0010068
Disease:
Coronary heart disease
0.040 GeneticVariation BEFREE To investigate the relationship between G1958A gene polymorphism of methylenetetrahydrofolate dehydrogenase (MTHFD) and occurrence of congenital heart disease (CHD) in North China. 15861780 2005
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0010068
Disease:
Coronary heart disease
0.040 GeneticVariation BEFREE Our results indicate that the Arg653Gln polymorphism decreases enzyme stability and increases risk for CHD. 18767138 2009
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0010068
Disease:
Coronary heart disease
0.040 GeneticVariation BEFREE Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958A, RFC1-G80A and MTR-A2756G) may increase the risk of CHD. 23701284 2013
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0010068
Disease:
Coronary heart disease
0.040 GeneticVariation BEFREE MTHFD1 p.R653Q has been proposed as a risk factor for neural tube defects (NTDs), congenital heart defects (CHDs) and pregnancy losses. 23704330 2013
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0000768
Disease:
Congenital Abnormality
0.030 GeneticVariation BEFREE The minor allelic frequencies of the MTHFD1 1958G>A and MTHFR 1298A>C in our populations were similar to those reported from Southeast Asian population, suggesting a possible explanation for the prevalence of this malformation in these regions. 28398708 2017
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027651
Disease:
Neoplasms
0.030 GeneticVariation BEFREE After additional stratification of case and control groups according to sex and tumor type association of MTHFD1 G1958A with NHL was observed only in high-grade NHL subgroup (allele G OR=1.664, P=0.01) and in women subgroup (allele G OR=2.043, P=0.009). 21055808 2011
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0000768
Disease:
Congenital Abnormality
0.030 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: C0027651
Disease:
Neoplasms
0.030 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: C0018798
Disease:
Congenital Heart Defects
0.030 GeneticVariation BEFREE MTHFD1 p.R653Q has been proposed as a risk factor for neural tube defects (NTDs), congenital heart defects (CHDs) and pregnancy losses. 23704330 2013
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