{{Rsnum
|rsid=12121543
|Gene=MTHFR
|Chromosome=1
|position=11794614
|Orientation=plus
|GMAF=0.1901
|Gene_s=MTHFR
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 7.1 | 38.1 | 54.9
| HCB | 1.5 | 32.8 | 65.7
| JPT | 0.9 | 31.9 | 67.3
| YRI | 0.7 | 21.1 | 78.2
| ASW | 0.0 | 24.6 | 75.4
| CHB | 1.5 | 32.8 | 65.7
| CHD | 7.4 | 25.9 | 66.7
| GIH | 9.9 | 48.5 | 41.6
| LWK | 2.7 | 21.8 | 75.5
| MEX | 3.4 | 27.6 | 69.0
| MKK | 3.8 | 34.0 | 62.2
| TSI | 10.8 | 30.4 | 58.8
| HapMapRevision=28
}}{{PMID Auto
|PMID=22241680
|Title=Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele
|OA=1
}}

{{PMID|21273288|OA=1
}} Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster.

{{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}}