{{Rsnum
|rsid=3733890
|Gene=BHMT
|Chromosome=5
|position=79126136
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.3012
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=BHMT
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 10.6 | 41.6 | 47.8
| HCB | 8.0 | 42.3 | 49.6
| JPT | 4.4 | 41.6 | 54.0
| YRI | 4.1 | 38.1 | 57.8
| ASW | 1.8 | 39.3 | 58.9
| CHB | 8.0 | 42.3 | 49.6
| CHD | 13.0 | 41.7 | 45.4
| GIH | 4.0 | 42.6 | 53.5
| LWK | 10.0 | 32.7 | 57.3
| MEX | 15.5 | 48.3 | 36.2
| MKK | 1.3 | 33.3 | 65.4
| TSI | 13.7 | 42.2 | 44.1
| HapMapRevision=28
}}Variant [[BHMT]] allele may increase risk for neural tube defects, apparently only in folate rich environments, and possibly in conjunction with [[rs1801133]] {{PMID|17035141|OA=1
}}

{{Venter SNP
|rsid=3733890
|allele=A
|frequency=0.283
|uid=1103654141901
|type=heterozygous_SNP
|hugo=BHMT
|ensembl gene=ENSG00000145692
|ensembl transcript=ENST00000380300
|sift=TOLERATED
|disease=Defects in BHMT could lead to hyperhomocysteinemia. But such a defect has not yet been observed. Hyperhomocysteinemia is an independent risk factor for the development of arteriosclerotic vascular disease.
}}

{{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=19737740
|Title=Associations of folate and choline metabolism gene polymorphisms with orofacial clefts
}}

{{PMID Auto
|PMID=21429654
|Title=Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility
}}

{{PMID Auto
|PMID=22116453
|Title=Folate and vitamin B12-related genes and risk for omphalocele
|OA=1
}}

{{PMID Auto
|PMID=16816108
|Title=Common genetic polymorphisms affect the human requirement for the nutrient choline.
|OA=1
}}

{{PMID Auto
|PMID=17613168
|Title=Gene response elements, genetic polymorphisms and epigenetics influence the human dietary requirement for choline.
|OA=1
}}

{{PMID Auto
|PMID=18203168
|Title=Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts.
|OA=1
}}

{{PMID Auto
|PMID=18230680
|Title=Choline metabolism and risk of breast cancer in a population-based study.
|OA=1
}}

{{PMID Auto
|PMID=18457970
|Title=Human betaine-homocysteine methyltransferase (BHMT) and BHMT2: common gene sequence variation and functional characterization.
|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=18789905
|Title=Genetic polymorphisms in methyl-group metabolism and epigenetics: lessons from humans and mouse models.
|OA=1
}}

{{PMID Auto
|PMID=19048631
|Title=Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.
|OA=1
}}

{{PMID Auto
|PMID=19261726
|Title=Epigenetic mechanisms for nutrition determinants of later health outcomes.
|OA=1
}}

{{PMID Auto
|PMID=19376481
|Title=One-carbon metabolism and breast cancer: an epidemiological perspective.
|OA=1
}}

{{PMID Auto
|PMID=19635752
|Title=High intakes of choline and betaine reduce breast cancer mortality in a population-based study.
|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=21349258
|Title=Folate and choline metabolism gene variants and development of uterine cervical carcinoma.
}}

{{PMID Auto
|PMID=21688148
|Title=Polymorphic variants of genes involved in homocysteine metabolism in celiac disease.
|OA=1
}}

{{PMID Auto
|PMID=22183302
|Title=Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population.
}}

{{GET Evidence
|gene=BHMT
|aa_change=Arg239Gln
|aa_change_short=R239Q
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3733890
|overall_frequency_n=2941
|overall_frequency_d=10758
|overall_frequency=0.273378
|n_genomes=26
|n_genomes_annotated=0
|n_haplomes=29
|n_articles=0
|n_articles_annotated=0
|pph2_score=0.001
|nblosum100=0
|autoscore=0
|webscore=N
}}

{{PMID Auto
|PMID=22833659
|Title=Gender and single nucleotide polymorphisms in MTHFR, BHMT, SPTLC1, CRBP2, CETP, and SCARB1 are significant predictors of plasma homocysteine normalized by RBC folate in healthy adults
|OA=1
}}

{{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}}