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From SNPedia

Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1805087(A;G)
Make rs1805087(G;G)
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs1805087
23andMe allrs1805087
SNP Nexus

GWAS Ctlgrs1805087
Max Magnitude0
? (A;A) (A;G) (G;G) 28

[PMID 19737740] Associations of folate and choline metabolism gene polymorphisms with orofacial clefts

[PMID 20490431] 5-Methyltetrahydrofolate-homocysteine methyltransferase gene polymorphism (MTR) and risk of head and neck cancer

[PMID 21567207] Tetra primer ARMS-PCR relates folate/homocysteine pathway genes and ACE gene polymorphism with coronary artery disease

[PMID 22005284] Importance of gene variants and co-factors of folate metabolic pathway in the etiology of idiopathic intellectual disability

[PMID 21429654] Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility

[PMID 22792358OA-icon.png] Association between Genetic Variants in DNA and Histone Methylation and Telomere Length.

[PMID 17035141OA-icon.png] Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.

[PMID 17119116OA-icon.png] Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.

[PMID 18098291] Folate metabolism genes, vegetable intake and renal cancer risk in central Europe.

[PMID 18191955OA-icon.png] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.

[PMID 18199722] Dietary vitamin B6 intake and the risk of colorectal cancer.

[PMID 18203168OA-icon.png] Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts.

[PMID 18381459OA-icon.png] Genetic variation in the one-carbon transfer pathway and ovarian cancer risk.

[PMID 18521744OA-icon.png] BRCA1 promoter methylation is associated with increased mortality among women with breast cancer.

[PMID 18708404OA-icon.png] B-vitamin intake, one-carbon metabolism, and survival in a population-based study of women with breast cancer.

[PMID 18708408OA-icon.png] Vitamins B2, B6, and B12 and risk of new colorectal adenomas in a randomized trial of aspirin use and folic acid supplementation.

[PMID 18842806OA-icon.png] Associations between single nucleotide polymorphisms in folate uptake and metabolizing genes with blood folate, homocysteine, and DNA uracil concentrations.

[PMID 18992148OA-icon.png] Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.

[PMID 19064578OA-icon.png] No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.

[PMID 19112534OA-icon.png] Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma.

[PMID 19336559OA-icon.png] Global DNA hypomethylation (LINE-1) in the normal colon and lifestyle characteristics and dietary and genetic factors.

[PMID 19376481OA-icon.png] One-carbon metabolism and breast cancer: an epidemiological perspective.

[PMID 19493349OA-icon.png] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.

[PMID 19525478OA-icon.png] Identification of ZNF366 and PTPRD as novel determinants of plasma homocysteine in a family-based genome-wide association study.

[PMID 19706843OA-icon.png] Alcohol consumption and genetic variation in methylenetetrahydrofolate reductase and 5-methyltetrahydrofolate-homocysteine methyltransferase in relation to breast cancer risk.

[PMID 19706844] Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis.

[PMID 19776626OA-icon.png] Polymorphisms in methionine synthase, methionine synthase reductase and serine hydroxymethyltransferase, folate and alcohol intake, and colon cancer risk.

[PMID 20111745OA-icon.png] Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects.

[PMID 21349258] Folate and choline metabolism gene variants and development of uterine cervical carcinoma.

[PMID 21688148OA-icon.png] Polymorphic variants of genes involved in homocysteine metabolism in celiac disease.

[PMID 22183302] Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population.

GET Evidence
aa_change Asp919Gly
aa_change_short D919G
impact protective
qualified_impact Low clinical importance, Uncertain protective
overall_frequency 0.217234
summary This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption.

[PMID 22957669] Association of dietary and genetic factors related to one-carbon metabolism with global methylation level of leukocyte DNA

[PMID 24103477] Methylenetetrahydrofolate reductase C677T and methionine synthase A2756G polymorphisms influence on leukocyte genomic DNA methylation level

[PMID 23401104] Folate-genetics and colorectal neoplasia: what we know and need to know next

[PMID 22021659OA-icon.png] Genetic variation throughout the folate metabolic pathway influences negative symptom severity in schizophrenia.

[PMID 23560644] Polymorphisms in genes involved in the free-radical process in patients with sudden sensorineural hearing loss and Meniere's disease.

Risk rs1805087(G;G)
Alt rs1805087(G;G)
Reference rs1805087(A;A)
Significance Non-pathogenic
Disease not specified Gastrointestinal stromal tumor
Variation info
Gene MTR
CLNDBN not specified Gastrointestinal stromal tumor
Reversed 0
HGVS NC_000001.10:g.237048500A>G
CLNSRC ClinVar University of Bologna GeneDx
CLNACC RCV000126868.2, RCV000144923.1,

[PMID 25102261] Maternal folate, alcohol and energy metabolism-related gene polymorphisms and the risk of recurrent pregnancy loss

[PMID 26196053] Association between genetic polymorphisms in folate-related enzyme genes and infertile men with non-obstructive azoospermia

[PMID 27097558] Polymorphisms in the MTHFR and MTR genes and the risk of varicose veins in ethnical Russians.