{{Rsnum
|rsid=4846048
|Gene=MTHFR
|Chromosome=1
|position=11786195
|Orientation=plus
|GMAF=0.2544
|Gene_s=LOC100506116,LOC100506310,MTHFR
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 46.0 | 47.8 | 6.2
| HCB | 77.4 | 22.6 | 0.0
| JPT | 84.1 | 15.9 | 0.0
| YRI | 25.2 | 51.7 | 23.1
| ASW | 29.8 | 47.4 | 22.8
| CHB | 77.4 | 22.6 | 0.0
| CHD | 84.1 | 14.0 | 1.9
| GIH | 44.6 | 44.6 | 10.9
| LWK | 28.2 | 52.7 | 19.1
| MEX | 58.6 | 36.2 | 5.2
| MKK | 30.1 | 50.6 | 19.2
| TSI | 52.9 | 31.4 | 15.7
| 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=19493349
|Title=118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}