Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0010068
Disease:
Coronary heart disease
0.080 GeneticVariation BEFREE Our results suggest that neither single mutation nor combined mutations in MTHFR C677T, CBS 844ins68 and MS A2756G represent an independent risk factor for increasing IS and coronary artery disease risks in Chinese population. 11672761 2001
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C1956346
Disease:
Coronary Artery Disease
0.080 GeneticVariation BEFREE Our results suggest that neither single mutation nor combined mutations in MTHFR C677T, CBS 844ins68 and MS A2756G represent an independent risk factor for increasing IS and coronary artery disease risks in Chinese population. 11672761 2001
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0027051
Disease:
Myocardial Infarction
0.050 GeneticVariation BEFREE The G allele of MS A2756G yields an OR of 0.92(95% CI 0.47-1.81) for IS and 1.17 (95% CI 0.58-2.37) for MI. 11672761 2001
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.030 GeneticVariation BEFREE Our results suggest that neither single mutation nor combined mutations in MTHFR C677T, CBS 844ins68 and MS A2756G represent an independent risk factor for increasing IS and coronary artery disease risks in Chinese population. 11672761 2001
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0948008
Disease:
Ischemic stroke
0.020 GeneticVariation BEFREE Our results suggest that neither single mutation nor combined mutations in MTHFR C677T, CBS 844ins68 and MS A2756G represent an independent risk factor for increasing IS and coronary artery disease risks in Chinese population. 11672761 2001
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0751606
Disease:
Adult Acute Lymphocytic Leukemia
0.040 GeneticVariation BEFREE Polymorphisms in methionine synthase (MS A2756G), cytosolic serine hydroxymethyltransferase (SHMT1 C1420T), and a double (2R2R) or triple (3R3R) 28-bp tandem repeat in the promoter region of thymidylate synthase (TS) were studied and found to modulate ALL risk. 11986237 2002
dbSNP: rs201765376
rs201765376
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0751606
Disease:
Adult Acute Lymphocytic Leukemia
0.020 GeneticVariation BEFREE Polymorphisms in methionine synthase (MS A2756G), cytosolic serine hydroxymethyltransferase (SHMT1 C1420T), and a double (2R2R) or triple (3R3R) 28-bp tandem repeat in the promoter region of thymidylate synthase (TS) were studied and found to modulate ALL risk. 11986237 2002
dbSNP: rs121913581
rs121913581
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C1855128
Disease:
Methylcobalamin Deficiency, CblG Type
T 0.700 CausalMutation CLINVAR Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. 12068375 2002
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.030 GeneticVariation BEFREE Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-synthase (T833C), and methionine synthase (A2756G) genes cause hyperhomocysteinemia, an independent risk factor for atherothrombosis. 12476935 2002
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C1963943
Disease:
Atherothrombosis
0.010 GeneticVariation BEFREE Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-synthase (T833C), and methionine synthase (A2756G) genes cause hyperhomocysteinemia, an independent risk factor for atherothrombosis. 12476935 2002
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0024305
Disease:
Lymphoma, Non-Hodgkin
0.040 GeneticVariation BEFREE We analysed genetic polymorphisms for methionine synthase (MS) A2756G, methylenetetrahydrofolate reductase (MTHFR) C677T and MTHFR A1298C in Caucasians with non-Hodgkin's lymphoma (NHL; n = 151), multiple myeloma (MM; n = 90) and 299 control subjects. 12648076 2003
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0026764
Disease:
Multiple Myeloma
0.030 GeneticVariation BEFREE We analysed genetic polymorphisms for methionine synthase (MS) A2756G, methylenetetrahydrofolate reductase (MTHFR) C677T and MTHFR A1298C in Caucasians with non-Hodgkin's lymphoma (NHL; n = 151), multiple myeloma (MM; n = 90) and 299 control subjects. 12648076 2003
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0079731
Disease:
B-Cell Lymphomas
0.010 GeneticVariation BEFREE Methionine synthase genetic polymorphism MS A2756G alters susceptibility to follicular but not diffuse large B-cell non-Hodgkin's lymphoma or multiple myeloma. 12648076 2003
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0027794
Disease:
Neural Tube Defects
0.090 GeneticVariation BEFREE We detected MTR A2756G and MTRR A66G polymorphisms using PCR-RFLP analysis in a group of NTD infants, their mothers and normal controls. 12649067 2003
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0027651
Disease:
Neoplasms
0.020 GeneticVariation BEFREE This study reports the influence of folate status, DNA methylation, and polymorphisms of methylenetetrahydrofolate reductase (MTHFR 677C-->T and 1298A-->C), methionine synthase (MS 2756A-->G), and cystathionine-beta-synthase (CBS 844ins68) on risk for developing colorectal neoplasia. 12730865 2003
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0002395
Disease:
Alzheimer's Disease
0.040 GeneticVariation BEFREE To assess whether the MS A2756G polymorphism holds any influence on AD risk, we have analyzed 172 AD patients and 166 controls. 12876480 2003
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0010068
Disease:
Coronary heart disease
0.080 GeneticVariation BEFREE In a Dutch case-control study comprising 123 cases with coronary heart disease (CHD) and 540 controls, we evaluated whether the MTR 2756A>G polymorphism was associated with plasma homocysteine, vitamin B12, folate concentrations, and CHD risk. 12893022 2003
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C1956346
Disease:
Coronary Artery Disease
0.080 GeneticVariation BEFREE The 2756A>G variant in the gene encoding methionine synthase: its relation with plasma homocysteine levels and risk of coronary heart disease in a Dutch case-control study. 12893022 2003
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.030 GeneticVariation BEFREE The 2756A>G variant in the gene encoding methionine synthase: its relation with plasma homocysteine levels and risk of coronary heart disease in a Dutch case-control study. 12893022 2003
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C4521042
Disease:
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE Contradictory findings have been recently published on the evaluation of genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR 677 C-->T) and methionine synthase reductase (MTRR 66 A-->G) as risk factors for having a child with Down syndrome (DS); however, the influence of polymorphisms of methionine synthase (MTR 2756 A-->G) and of MTHFR 1298 A-->C has never been evaluated. 12923861 2003
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0013080
Disease:
Down Syndrome
0.100 GeneticVariation BEFREE Contradictory findings have been recently published on the evaluation of genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR 677 C-->T) and methionine synthase reductase (MTRR 66 A-->G) as risk factors for having a child with Down syndrome (DS); however, the influence of polymorphisms of methionine synthase (MTR 2756 A-->G) and of MTHFR 1298 A-->C has never been evaluated. 12923861 2003
dbSNP: rs150198234
rs150198234
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0027794
Disease:
Neural Tube Defects
0.010 GeneticVariation BEFREE Based on case-control and family based (transmission disequilibrium test) analyses we did not find an association between the mutase single nucleotide polymorphisms (SNPs) K212K (636A-->G), H532R (1595A-->G) and V671I (2011G-->A) and NTDs. 14654360 2003
dbSNP: rs751839046
rs751839046
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0027794
Disease:
Neural Tube Defects
0.010 GeneticVariation BEFREE Based on case-control and family based (transmission disequilibrium test) analyses we did not find an association between the mutase single nucleotide polymorphisms (SNPs) K212K (636A-->G), H532R (1595A-->G) and V671I (2011G-->A) and NTDs. 14654360 2003
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C1302401
Disease:
Adenoma of large intestine
0.050 GeneticVariation BEFREE Methionine synthase D919G polymorphism, folate metabolism, and colorectal adenoma risk. 14744749 2004
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0042847
Disease:
Vitamin B 12 Deficiency
0.020 GeneticVariation BEFREE Finally, folate fortification unveiled cobalamin deficiency in some patients, associated with the methionine synthase A2756G mutation. 15063399 2004