Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2275565
rs2275565
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C2242817
Disease:
Homocysteine measurement 		T 0.800 GeneticVariation GWASDB Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. 23824729 2013
dbSNP: rs2275565
rs2275565
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C2242817
Disease:
Homocysteine measurement 		T 0.800 GeneticVariation GWASCAT Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. 23824729 2013
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: 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: rs121913578
rs121913578
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C1855128
Disease:
Methylcobalamin Deficiency, CblG Type 		T 0.800 CausalMutation CLINVAR
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: 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: 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: 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: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.100 GeneticVariation BEFREE In conclusion, the present meta-analysis indicated that MTRR rs1801394, MTR rs1805087, and MTHFR rs1801133 polymorphisms could be used to identify individuals at high risk of developing BC. 31549463 2020
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0678222
Disease:
Breast Carcinoma 		0.100 GeneticVariation BEFREE In conclusion, the present meta-analysis indicated that MTRR rs1801394, MTR rs1805087, and MTHFR rs1801133 polymorphisms could be used to identify individuals at high risk of developing BC. 31549463 2020
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0678222
Disease:
Breast Carcinoma 		0.100 GeneticVariation BEFREE MTR c.2756A>G polymorphism may confer protection for BC associated with iAs exposure. 28889078 2017
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.100 GeneticVariation BEFREE MTR c.2756A>G polymorphism may confer protection for BC associated with iAs exposure. 28889078 2017
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0678222
Disease:
Breast Carcinoma 		0.100 GeneticVariation BEFREE Role of MTHFR C677T and MTR A2756G polymorphisms in thyroid and breast cancer development. 27173331 2016
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.100 GeneticVariation BEFREE Role of MTHFR C677T and MTR A2756G polymorphisms in thyroid and breast cancer development. 27173331 2016
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0678222
Disease:
Breast Carcinoma 		0.100 GeneticVariation BEFREE SHMT C1420T mutations may reduce breast cancer susceptibility, whereas MTRR A66G and MS A2756G mutations may increase breast cancer susceptibility. 27347936 2016
dbSNP: rs1805087
rs1805087
Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.100 GeneticVariation BEFREE SHMT C1420T mutations may reduce breast cancer susceptibility, whereas MTRR A66G and MS A2756G mutations may increase breast cancer susceptibility. 27347936 2016