{{Rsnum
|rsid=1950902
|Gene=MTHFD1
|Chromosome=14
|position=64415662
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.191
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=MTHFD1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 63.7 | 31.9 | 4.4
| HCB | 59.9 | 31.4 | 8.8
| JPT | 60.2 | 37.2 | 2.7
| YRI | 76.2 | 20.4 | 3.4
| ASW | 71.9 | 26.3 | 1.8
| CHB | 59.9 | 31.4 | 8.8
| CHD | 52.3 | 40.4 | 7.3
| GIH | 89.1 | 9.9 | 1.0
| LWK | 72.7 | 26.4 | 0.9
| MEX | 81.0 | 19.0 | 0.0
| MKK | 85.3 | 14.7 | 0.0
| TSI | 71.6 | 27.5 | 1.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=1950902
|allele=G
|frequency=0.792
|uid=1103649084604
|type=homozygous_SNP
|hugo=MTHFD1
|ensembl gene=ENSG00000100714
|ensembl transcript=ENST00000216605
|sift=TOLERATED
|disease=Defects in MTHFD1 may be associated with elevated risk for neural tube defects (NTD) such as spina bifida.
}}

{{PMID Auto
|PMID=20737570
|Title=Genetic variants in one-carbon metabolism-related genes contribute to NSCLC prognosis in a Chinese population
}}

{{PMID Auto
|PMID=12384833
|Title=A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group.
|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=19376481
|Title=One-carbon metabolism and breast cancer: an epidemiological perspective.
|OA=1
}}
    
{{PMID Auto
|PMID=17548676
|Title=Association of polymorphisms in one-carbon metabolism genes and postmenopausal breast cancer incidence.
}}

{{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=20570913
|Title=Genetic variation in TYMS in the one-carbon transfer pathway is associated with ovarian carcinoma types in the Ovarian Cancer Association Consortium.
|OA=1
}}

{{GET Evidence
|gene=MTHFD1
|aa_change=Lys134Arg
|aa_change_short=K134R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1950902
|overall_frequency_n=8936
|overall_frequency_d=10758
|overall_frequency=0.830638
|n_genomes=55
|n_genomes_annotated=0
|n_haplomes=95
|n_articles=0
|n_articles_annotated=0
|nblosum100=-3
|autoscore=0
|webscore=N
}}

{{PMID Auto
|PMID=25039261
|Title=Association Study of MTHFD1 Coding Polymorphisms R134K and R653Q With Migraine Susceptibility
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}