rs3733890
| Orientation | plus |
| Stabilized | plus |
| Make rs3733890(A;A) |
| Make rs3733890(A;G) |
| Make rs3733890(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 79126136 |
| Gene | BHMT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3733890 |
| dbSNP (classic) | rs3733890 |
| ClinGen | rs3733890 |
| ebi | rs3733890 |
| HLI | rs3733890 |
| Exac | rs3733890 |
| Gnomad | rs3733890 |
| Varsome | rs3733890 |
| LitVar | rs3733890 |
| Map | rs3733890 |
| PheGenI | rs3733890 |
| Biobank | rs3733890 |
| 1000 genomes | rs3733890 |
| hgdp | rs3733890 |
| ensembl | rs3733890 |
| geneview | rs3733890 |
| scholar | rs3733890 |
| rs3733890 | |
| pharmgkb | rs3733890 |
| gwascentral | rs3733890 |
| openSNP | rs3733890 |
| 23andMe | rs3733890 |
| SNPshot | rs3733890 |
| SNPdbe | rs3733890 |
| MSV3d | rs3733890 |
| GWAS Ctlg | rs3733890 |
| GMAF | 0.3012 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
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[PMID 28134761
] Genetic Variation in Choline-Metabolizing Enzymes Alters Choline Metabolism in Young Women Consuming Choline Intakes Meeting Current Recommendations
Variant BHMT allele may increase risk for neural tube defects, apparently only in folate rich environments, and possibly in conjunction with rs1801133 [PMID 17035141]
[PMID 19493349] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects
[PMID 19737740] Associations of folate and choline metabolism gene polymorphisms with orofacial clefts
[PMID 21429654] Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility
[PMID 22116453] Folate and vitamin B12-related genes and risk for omphalocele
[PMID 16816108] Common genetic polymorphisms affect the human requirement for the nutrient choline.
[PMID 17613168] Gene response elements, genetic polymorphisms and epigenetics influence the human dietary requirement for choline.
[PMID 18203168] Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts.
[PMID 18230680] Choline metabolism and risk of breast cancer in a population-based study.
[PMID 18457970] Human betaine-homocysteine methyltransferase (BHMT) and BHMT2: common gene sequence variation and functional characterization.
[PMID 18521744] BRCA1 promoter methylation is associated with increased mortality among women with breast cancer.
[PMID 18708404] B-vitamin intake, one-carbon metabolism, and survival in a population-based study of women with breast cancer.
[PMID 18789905] Genetic polymorphisms in methyl-group metabolism and epigenetics: lessons from humans and mouse models.
[PMID 19048631] Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.
[PMID 19261726] Epigenetic mechanisms for nutrition determinants of later health outcomes.
[PMID 19376481] One-carbon metabolism and breast cancer: an epidemiological perspective.
[PMID 19635752] High intakes of choline and betaine reduce breast cancer mortality in a population-based study.
[PMID 20111745] Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects.
[PMID 21349258] Folate and choline metabolism gene variants and development of uterine cervical carcinoma.
[PMID 21688148] Polymorphic variants of genes involved in homocysteine metabolism in celiac disease.
[PMID 22183302] Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population.
[PMID 22833659] 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
[PMID 27488260] Dietary choline and betaine intake, choline-metabolising genetic polymorphisms and breast cancer risk: a case-control study in China.
[PMID 31826386] Genetic and epigenetic regulation of BHMT is associated with folate therapy efficacy in hyperhomocysteinaemia.
[PMID 32939549] Associations between Plasma Choline Metabolites and Genetic Polymorphisms in One-Carbon Metabolism in Postmenopausal Women: The Women's Health Initiative Observational Study.
