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rs3733890

From SNPedia

Orientationplus
Stabilizedplus
Make rs3733890(A;A)
Make rs3733890(A;G)
Make rs3733890(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position79126136
GeneBHMT
is asnp
is mentioned by
dbSNPrs3733890
ebirs3733890
HLIrs3733890
Exacrs3733890
Varsomers3733890
Maprs3733890
PheGenIrs3733890
hapmaprs3733890
1000 genomesrs3733890
hgdprs3733890
ensemblrs3733890
gopubmedrs3733890
geneviewrs3733890
scholarrs3733890
googlers3733890
pharmgkbrs3733890
gwascentralrs3733890
openSNPrs3733890
23andMers3733890
23andMe allrs3733890
SNP Nexus

SNPshotrs3733890
SNPdbers3733890
MSV3drs3733890
GWAS Ctlgrs3733890
GMAF0.3012
Max Magnitude
? (A;A) (A;G) (G;G) 28
Variant BHMT allele may increase risk for neural tube defects, apparently only in folate rich environments, and possibly in conjunction with rs1801133 [PMID 17035141OA-icon.png]


Venter snp
Source plos
Gene BHMT
allele A
frequency 0.283
sift TOLERATED
HuRef 1103654141901
Disease Association 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 19493349OA-icon.png] 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 22116453OA-icon.png] Folate and vitamin B12-related genes and risk for omphalocele


[PMID 16816108OA-icon.png] Common genetic polymorphisms affect the human requirement for the nutrient choline.


[PMID 17613168OA-icon.png] Gene response elements, genetic polymorphisms and epigenetics influence the human dietary requirement for choline.


[PMID 18203168OA-icon.png] Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts.


[PMID 18230680OA-icon.png] Choline metabolism and risk of breast cancer in a population-based study.


[PMID 18457970OA-icon.png] Human betaine-homocysteine methyltransferase (BHMT) and BHMT2: common gene sequence variation and functional characterization.


[PMID 18521744OA-icon.png] BRCA1 promoter methylation is associated with increased mortality among women with breast cancer.


[PMID 18708404OA-icon.png] B-vitamin intake, one-carbon metabolism, and survival in a population-based study of women with breast cancer.


[PMID 18789905OA-icon.png] Genetic polymorphisms in methyl-group metabolism and epigenetics: lessons from humans and mouse models.


[PMID 19048631OA-icon.png] Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.


[PMID 19261726OA-icon.png] Epigenetic mechanisms for nutrition determinants of later health outcomes.


[PMID 19376481OA-icon.png] One-carbon metabolism and breast cancer: an epidemiological perspective.


[PMID 19635752OA-icon.png] High intakes of choline and betaine reduce breast cancer mortality in a population-based study.


[PMID 20111745OA-icon.png] 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 21688148OA-icon.png] 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.


GET Evidence
BHMT-R239Q
aa_change Arg239Gln
aa_change_short R239Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.273378
summary



[PMID 22833659OA-icon.png] 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.