Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913578
rs121913578
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C1855128
Disease:
Methylcobalamin Deficiency, CblG Type
T 0.800 CausalMutation CLINVAR
dbSNP: rs121913578
rs121913578
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C3161330
Disease:
Profound intellectual disabilities
T 0.700 GeneticVariation CLINVAR
dbSNP: rs121913578
rs121913578
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C1848580
Disease:
Decreased methionine synthase activity
T 0.700 GeneticVariation CLINVAR
dbSNP: rs121913578
rs121913578
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0014544
Disease:
Epilepsy
T 0.700 GeneticVariation CLINVAR
dbSNP: rs121913578
rs121913578
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0019880
Disease:
Homocystinuria
T 0.700 GeneticVariation CLINVAR
dbSNP: rs121913580
rs121913580
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C1855128
Disease:
Methylcobalamin Deficiency, CblG Type
T 0.700 CausalMutation CLINVAR
dbSNP: rs121913582
rs121913582
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C1855128
Disease:
Methylcobalamin Deficiency, CblG Type
C 0.700 CausalMutation CLINVAR
dbSNP: rs797044443
rs797044443
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C1855128
Disease:
Methylcobalamin Deficiency, CblG Type
G 0.700 CausalMutation CLINVAR
dbSNP: rs797044444
rs797044444
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C1855128
Disease:
Methylcobalamin Deficiency, CblG Type
C 0.700 CausalMutation CLINVAR
dbSNP: rs797044445
rs797044445
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C1855128
Disease:
Methylcobalamin Deficiency, CblG Type
CA 0.700 CausalMutation CLINVAR
dbSNP: rs121913578
rs121913578
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C1855128
Disease:
Methylcobalamin Deficiency, CblG Type
0.800 GeneticVariation UNIPROT Defects in human methionine synthase in cblG patients. 8968736 1996
dbSNP: rs121913579
rs121913579
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C1855128
Disease:
Methylcobalamin Deficiency, CblG Type
0.700 GeneticVariation UNIPROT Defects in human methionine synthase in cblG patients. 8968736 1996
dbSNP: rs121913578
rs121913578
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C1855128
Disease:
Methylcobalamin Deficiency, CblG Type
0.800 GeneticVariation UNIPROT Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. 8968737 1996
dbSNP: rs121913579
rs121913579
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C1855128
Disease:
Methylcobalamin Deficiency, CblG Type
0.700 GeneticVariation UNIPROT Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. 8968737 1996
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0027794
Disease:
Neural Tube Defects
0.090 GeneticVariation BEFREE The D919G mutation does not seem to be a risk factor for NTD or vascular disease. 9327029 1997
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0042373
Disease:
Vascular Diseases
0.020 GeneticVariation BEFREE The D919G mutation does not seem to be a risk factor for NTD or vascular disease. 9327029 1997
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C1302401
Disease:
Adenoma of large intestine
0.050 GeneticVariation BEFREE We also examined the relationship of a newly identified polymorphism (asp919gly) of the methionine synthase gene (MS) with the risk of colorectal adenomas in the same population. 9886567 1998
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0042373
Disease:
Vascular Diseases
0.020 GeneticVariation BEFREE Thus, the methionine synthase D919G mutation was found to be common in the Japanese general population, and it appears unlikely that this polymorphism has a major effect on homocysteine metabolism and/or the onset of vascular diseases. 9974410 1999
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C1956346
Disease:
Coronary Artery Disease
0.080 GeneticVariation BEFREE Methyltetrahydrofolate reductase (MTHFR) 677C-->T, cystathionine beta synthase (CBS) 68-bp insertion at exon 8, and methionine synthase (MS) 2756A-->G were typed in 685 Australian caucasian patients aged < or =65 years with and without angiographically documented coronary artery disease (CAD). 10487496 1999
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0009402
Disease:
Colorectal Carcinoma
0.050 GeneticVariation BEFREE In this study, we examined the relationship of a polymorphism (2756A-->G, asp-->gly) in the gene (MTR) for methionine synthase, another important enzyme in the same folate/methionine/homocyst(e)ine metabolic pathway, with risk of colorectal cancer among 356 cases and 476 cancer-free controls. 10498402 1999
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.020 GeneticVariation BEFREE In this study, we examined the relationship of a polymorphism (2756A-->G, asp-->gly) in the gene (MTR) for methionine synthase, another important enzyme in the same folate/methionine/homocyst(e)ine metabolic pathway, with risk of colorectal cancer among 356 cases and 476 cancer-free controls. 10498402 1999
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C1861172
Disease:
Venous Thromboembolism
0.010 GeneticVariation BEFREE The frequencies of Factor V G1691A (FVL), prothrombin (PT) G20210A, 5'10'methylenetetrahydrofolate reductase (MTHFR) C677T, and methionine synthase (MS) A2756G (four mutations associated with an increased risk of venous thromboembolism [VTE]) were determined in a sample of approximately 1500 New York State residents. 10963782 2000
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0027051
Disease:
Myocardial Infarction
0.050 GeneticVariation BEFREE Influence of a methionine synthase (D919G) polymorphism on plasma homocysteine and folate levels and relation to risk of myocardial infarction. 11257268 2001
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0022661
Disease:
Kidney Failure, Chronic
0.010 GeneticVariation BEFREE To evaluate the respective roles of residual glomerular filtration (by measuring a specific protein marker, cystatin C), genetic polymorphisms and nutritional status in tHcy blood levels in end-stage renal disease patients (ESRD) under hemodialysis and supplemented with folate, we measured tHcy, folate, vitamin B12 (B12), creatinine, cystatin C, albumin and C-reactive protein and determined the polymorphism of methylenetetrahydrofolate reductase (MTHFR) (C677T and A1289C) and of methionine synthase (MS) (A2756G) in 114 ESRD patients before hemodialysis and 76 control subjects. 11592445 2001
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C2316810
Disease:
Chronic kidney disease stage 5
0.010 GeneticVariation BEFREE To evaluate the respective roles of residual glomerular filtration (by measuring a specific protein marker, cystatin C), genetic polymorphisms and nutritional status in tHcy blood levels in end-stage renal disease patients (ESRD) under hemodialysis and supplemented with folate, we measured tHcy, folate, vitamin B12 (B12), creatinine, cystatin C, albumin and C-reactive protein and determined the polymorphism of methylenetetrahydrofolate reductase (MTHFR) (C677T and A1289C) and of methionine synthase (MS) (A2756G) in 114 ESRD patients before hemodialysis and 76 control subjects. 11592445 2001