{{Rsnum
|rsid=1076991
|Gene=MTHFD1
|Chromosome=14
|position=64388323
|Orientation=minus
|GMAF=0.4871
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MTHFD1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 27.4 | 50.4 | 22.1
| HCB | 50.4 | 43.1 | 6.6
| JPT | 55.8 | 38.1 | 6.2
| YRI | 0.0 | 13.6 | 86.4
| ASW | 5.3 | 28.1 | 66.7
| CHB | 50.4 | 43.1 | 6.6
| CHD | 57.8 | 34.9 | 7.3
| GIH | 27.0 | 52.0 | 21.0
| LWK | 0.9 | 19.1 | 80.0
| MEX | 32.8 | 50.0 | 17.2
| MKK | 1.9 | 36.5 | 61.5
| TSI | 25.5 | 50.0 | 24.5
| HapMapRevision=28
}}{{PMID|19130090|OA=1
}} [[rs1076991]] C > T exerts a significant effect on promoter activity in vitro and along with [[rs2236225]] G > A influences embryonic development.

{{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=19808787
|Title=Genetics of human neural tube defects.
|OA=1
}}

{{PMID Auto
|PMID=23940529
|Title=Roles of genetic polymorphisms in the folate pathway in childhood acute lymphoblastic leukemia evaluated by bayesian relevance and effect size analysis
|OA=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}