{{Rsnum
|rsid=1979277
|Gene=SHMT1
|Chromosome=17
|position=18328782
|Orientation=plus
|GMAF=0.2461
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=SHMT1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 10.8 | 43.1 | 46.2
| HCB | 0.0 | 17.8 | 82.2
| JPT | 0.0 | 9.1 | 90.9
| YRI | 20.6 | 47.6 | 31.7
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 17.8 | 82.2
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{PMID Auto
|PMID=21178087
|Title=Polymorphisms in Serine Hydroxymethyltransferase 1 and Methylenetetrahydrofolate Reductase Interact to Increase Cardiovascular Disease Risk in Humans
|OA=1
}}

{{PMID Auto
|PMID=17035141
|Title=Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.
|OA=1
}}

{{PMID Auto
|PMID=17119116
|Title=Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.
|OA=1
}}

{{PMID Auto
|PMID=17366837
|Title=Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada.
|OA=1
}}

{{PMID Auto
|PMID=17420066
|Title=Polymorphisms of cytosolic serine hydroxymethyltransferase and risk of lung cancer: a case-control analysis.
|OA=1
}}

{{PMID Auto
|PMID=18381459
|Title=Genetic variation in the one-carbon transfer pathway and ovarian cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=18521744
|Title=BRCA1 promoter methylation is associated with increased mortality among women with breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=18708404
|Title=B-vitamin intake, one-carbon metabolism, and survival in a population-based study of women with breast cancer.
|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=19706844
|Title=Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis.
}}

{{PMID Auto
|PMID=19776626
|Title=Polymorphisms in methionine synthase, methionine synthase reductase and serine hydroxymethyltransferase, folate and alcohol intake, and colon cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=20111745
|Title=Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects.
|OA=1
}}

{{PMID Auto
|PMID=20458436
|Title=Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism.
}}

{{PMID Auto
|PMID=20852008
|Title=Associations of folate, vitamin B12, homocysteine, and folate-pathway polymorphisms with prostate-specific antigen velocity in men with localized prostate cancer.
}}

{{PMID Auto
|PMID=21687976
|Title=Polymorphism C1420T of Serine hydroxymethyltransferase gene on maternal risk for Down syndrome.
}}

{{GET Evidence
|gene=SHMT1
|aa_change=Leu474Phe
|aa_change_short=L474F
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1979277
|overall_frequency_n=3340
|overall_frequency_d=10750
|overall_frequency=0.310698
|n_genomes=29
|n_genomes_annotated=0
|n_haplomes=35
|n_articles=0
|n_articles_annotated=0
|nblosum100=0
|autoscore=0
|webscore=N
}}

{{PMID Auto
|PMID=23401104
|Title=Folate-genetics and colorectal neoplasia: what we know and need to know next
}}

{{PMID Auto
|PMID=23913011
|Title=Role of one-carbon metabolizing pathway genes and gene-nutrient interaction in the risk of non-Hodgkin lymphoma
}}

{{PMID Auto
|PMID=25227144
|Title=Folate-related polymorphisms in gastrointestinal stromal tumours: susceptibility and correlation with tumour characteristics and clinical outcome
}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}