Rs2274976

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Orientationminus
is asnp
is mentioned by
dbSNPrs2274976
PheGenIrs2274976
nextbiors2274976
hapmaprs2274976
1000 genomesrs2274976
hgdprs2274976
ensemblrs2274976
gopubmedrs2274976
geneviewrs2274976
scholarrs2274976
googlers2274976
pharmgkbrs2274976
gwascentralrs2274976
openSNPrs2274976
23andMers2274976
23andMe allrs2274976
SNP Nexus

SNPshotrs2274976
SNPdbers2274976
MSV3drs2274976
GeneMTHFR
Chromosome1
Orientationminus
GMAF0.05096
Position11850927
ReferenceGRCh37 37.1/131
Max Magnitude0
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs2274976(A;A)
Make rs2274976(A;G)
? (A;A) (A;G) (G;G) 28


[PMID 20863444] Associations between the genetic polymorphisms of MTHFR and outcomes of methotrexate treatment in rheumatoid arthritis


[PMID 22241680OA-icon.png] Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele


[PMID 17697348OA-icon.png] Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).


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


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


[PMID 19190136OA-icon.png] Association of thymidylate synthase gene with endometrial cancer risk in a Chinese population.


[PMID 19421414OA-icon.png] Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy.


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


[PMID 19591822] Prevalence of genetic thrombophilic polymorphisms in the Sri Lankan population--implications for association study design and clinical genetic testing services.


[PMID 20031578OA-icon.png] Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study.


[PMID 20416077OA-icon.png] Identification of type 2 diabetes-associated combination of SNPs using support vector machine.


[PMID 20458436] Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism.


[PMID 20890936] Maternal polymorphisms in folic acid metabolic genes are associated with nonsyndromic cleft lip and/or palate in the Brazilian population.


[PMID 21362212] [Detection of single nucleotide polymorphisms of mthfr and dpyd genes in leukemia cell lines K562 and K562/A02].


GET Evidence
MTHFR-R594Q
aa_change Arg594Gln
aa_change_short R594Q
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.040435
summary



[PMID 24254627] MTHFR rs2274976 polymorphism is a risk marker for nonsyndromic cleft lip with or without cleft palate in the brazilian population