{{Rsnum
|rsid=2066470
|Gene=MTHFR
|Chromosome=1
|position=11803000
|Orientation=plus
|ReferenceAllele=C
|GMAF=0.08678
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=MTHFR
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 76.1 | 23.0 | 0.9
| HCB | 84.7 | 14.6 | 0.7
| JPT | 79.6 | 19.5 | 0.9
| YRI | 89.8 | 10.2 | 0.0
| ASW | 84.2 | 15.8 | 0.0
| CHB | 84.7 | 14.6 | 0.7
| CHD | 80.7 | 17.4 | 1.8
| GIH | 74.0 | 24.0 | 2.0
| LWK | 82.6 | 16.5 | 0.9
| MEX | 91.2 | 8.8 | 0.0
| MKK | 84.0 | 14.1 | 1.9
| TSI | 89.2 | 9.8 | 1.0
| HapMapRevision=28
}}

Associated with lean body mass but not fat body mass in a study of ~1,800 Caucasians {{PMID|18180959}}

{{PMID Auto
|PMID=19593234
|Title=Association analyses suggest multiple interaction effects of the methylenetetrahydrofolate reductase polymorphisms on timing of menarche and natural menopause in white women
|OA=1
}}

{{PMID Auto
|PMID=18538037
|Title=A simple and accurate SNP scoring strategy based on typeIIS restriction endonuclease cleavage and matrix-assisted laser desorption/ionization mass spectrometry.
|OA=1
}}

{{PMID Auto
|PMID=18936436
|Title=Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
|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=19493349
|Title=118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
|OA=1
}}

{{PMID Auto
|PMID=20078877
|Title=Gene polymorphisms in association with emerging cardiovascular risk markers in adult women.
|OA=1
}}

{{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}}