rs6875201

This is a intron variant variant in the BHMT gene.

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Research that mentions this SNP (1)

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Conotruncal heart defects and common variants in maternal and fetal genes in folate, homocysteine, and transsulfuration pathways
AssociationN=4,648Charlotte A. Hobbs et al.(2014)· Birth Defects Research Part A: Clinical and Molecular Teratology

This case-control study of 616 conotruncal heart defect (CTD) case families and 1,645 control families identified 17 maternal and 17 fetal SNPs associated with CTD risk (BFDP ≤0.80). Key findings included 10 maternal SNPs in GCLC (rs572494 with BFDP=0.15), 4 fetal SNPs in TYMS (rs2612101, rs2847607, rs2847326, rs2847324), and evidence that maternal periconceptional folic acid supplementation modified SNP-CTD associations. The study evaluated 921 SNPs across 60 genes in folate, homocysteine, and transsulfuration pathways.

Traits studied:Conotruncal heart defectsConoventricular septal defectsD-transposition of the great arteriesDouble outlet right ventricleInterrupted aortic arch type BTetralogy of FallotTruncus arteriosus
PubMedDOIMetascience Observatory

About BHMT

This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008]

View all BHMT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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