{{Rsnum
|rsid=2274976
|Gene=MTHFR
|Chromosome=1
|position=11790870
|Orientation=minus
|GMAF=0.05096
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MTHFR
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.9 | 10.6 | 88.5
| HCB | 0.7 | 14.6 | 84.7
| JPT | 0.9 | 19.5 | 79.6
| YRI | 0.0 | 4.1 | 95.9
| ASW | 0.0 | 5.3 | 94.7
| CHB | 0.7 | 14.6 | 84.7
| CHD | 1.8 | 17.4 | 80.7
| GIH | 4.0 | 29.7 | 66.3
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 8.6 | 91.4
| MKK | 0.0 | 0.6 | 99.4
| TSI | 0.0 | 2.9 | 97.1
| HapMapRevision=28
}}{{PharmGKB
|RSID=rs2274976
|Name_s=MTHFR:1793G>A; MTHFR:Arg594Gln; G1793A
|Gene_s=C1orf167, MTHFR
|Feature=NA, Exon/NonSyn
|Evidence=PubMed ID:15643524
|Annotation=In a case control study of Asian gastric cancer (n=633), individuals with 6 variant alleles of three MTHFR common variants (i.e. C677T, A1298C and G1793A) were at increased risk for gastric cardia adenocarcinoma (OR =4.64, 95% CI =1.34-16.01) compared with those having 0-2 variants.
|Drugs=
|Drug Classes=
|Diseases=Stomach Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA164918204
}}

{{PMID Auto
|PMID=20863444
|Title=Associations between the genetic polymorphisms of MTHFR and outcomes of methotrexate treatment in rheumatoid arthritis
}}

{{PMID Auto
|PMID=22241680
|Title=Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele
|OA=1
}}

{{PMID Auto
|PMID=17697348
|Title=Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).
|OA=1
}}

{{PMID Auto
|PMID=18191955
|Title=Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
|OA=1
}}

{{PMID Auto
|PMID=19064578
|Title=No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=19190136
|Title=Association of thymidylate synthase gene with endometrial cancer risk in a Chinese population.
|OA=1
}}

{{PMID Auto
|PMID=19421414
|Title=Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy.
|OA=1
}}

{{PMID Auto
|PMID=19493349
|Title=118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
|OA=1
}}

{{PMID Auto
|PMID=19591822
|Title=Prevalence of genetic thrombophilic polymorphisms in the Sri Lankan population--implications for association study design and clinical genetic testing services.
}}

{{PMID Auto
|PMID=20031578
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=20416077
|Title=Identification of type 2 diabetes-associated combination of SNPs using support vector machine.
|OA=1
}}

{{PMID Auto
|PMID=20458436
|Title=Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism.
}}

{{PMID Auto
|PMID=20890936
|Title=Maternal polymorphisms in folic acid metabolic genes are associated with nonsyndromic cleft lip and/or palate in the Brazilian population.
}}

{{PMID Auto
|PMID=21362212
|Title=[Detection of single nucleotide polymorphisms of mthfr and dpyd genes in leukemia cell lines K562 and K562/A02].
}}

{{GET Evidence
|gene=MTHFR
|aa_change=Arg594Gln
|aa_change_short=R594Q
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2274976
|overall_frequency_n=435
|overall_frequency_d=10758
|overall_frequency=0.040435
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=1
|n_articles_annotated=1
|gene_in_genetests=Y
|in_pharmgkb=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=4
|webscore=N
|n_web_uneval=10
}}

{{PMID Auto
|PMID=24254627
|Title=MTHFR rs2274976 polymorphism is a risk marker for nonsyndromic cleft lip with or without cleft palate in the brazilian population
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}