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rs1805087

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1805087(A;G)
Make rs1805087(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position236885200
GeneMTR
is asnp
is mentioned by
dbSNPrs1805087
ebirs1805087
HLIrs1805087
Exacrs1805087
Varsomers1805087
Maprs1805087
PheGenIrs1805087
hapmaprs1805087
1000 genomesrs1805087
hgdprs1805087
ensemblrs1805087
gopubmedrs1805087
geneviewrs1805087
scholarrs1805087
googlers1805087
pharmgkbrs1805087
gwascentralrs1805087
openSNPrs1805087
23andMers1805087
23andMe allrs1805087
SNP Nexus

SNPshotrs1805087
SNPdbers1805087
MSV3drs1805087
GWAS Ctlgrs1805087
GMAF0.1933
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
MTR-D919G
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.


ClinVar
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.


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