rs1805087

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs1805087(A;G)

Make rs1805087(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

236885200

Gene

MTR

is a	snp
is	mentioned by
dbSNP	rs1805087
dbSNP (classic)	rs1805087
ClinGen	rs1805087
ebi	rs1805087
HLI	rs1805087
Exac	rs1805087
Gnomad	rs1805087
Varsome	rs1805087
LitVar	rs1805087
Map	rs1805087
PheGenI	rs1805087
Biobank	rs1805087
1000 genomes	rs1805087
hgdp	rs1805087
ensembl	rs1805087
geneview	rs1805087
scholar	rs1805087
google	rs1805087
pharmgkb	rs1805087
gwascentral	rs1805087
openSNP	rs1805087
23andMe	rs1805087
SNPshot	rs1805087
SNPdbe	rs1805087
MSV3d	rs1805087
GWAS Ctlg	rs1805087

GMAF

0.1933

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

[PMID 27342765 ] Genetic impairments in folate enzymes increase dependence on dietary choline for phosphatidylcholine production at the expense of betaine synthesis

[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 22792358 ] Association between Genetic Variants in DNA and Histone Methylation and Telomere Length.

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

[PMID 17119116 ] 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 18191955 ] 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 18203168 ] Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts.

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

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

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

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

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

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

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

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

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

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

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

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

[PMID 19706843 ] 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 19776626 ] Polymorphisms in methionine synthase, methionine synthase reductase and serine hydroxymethyltransferase, folate and alcohol intake, and colon cancer risk.

[PMID 20111745 ] 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 21688148 ] 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.

[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 22021659 ] 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.

ClinVar
Risk	rs1805087(G;G)
Alt	rs1805087(G;G)
Reference	Rs1805087(A;A)
Significance	Non-pathogenic
Disease	not specified Gastrointestinal stromal tumor Disorders of Intracellular Cobalamin Metabolism
Variation	info
Gene	MTR
CLNDBN	not specified Gastrointestinal stromal tumor Disorders of Intracellular Cobalamin Metabolism
Reversed	0
HGVS	NC_000001.10:g.237048500A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000126868.2, RCV000144923.1, RCV000398009.1,

[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.

[PMID 27822905 ] Associations between homocysteine metabolism related SNPs and carotid intima-media thickness: a Chinese sib pair study.

[PMID 28405167 ] Genetic variants and increased risk of meningioma: an updated meta-analysis.

[PMID 29369772] Polymorphisms in folate metabolism genes are associated with susceptibility to presbycusis.