rs10944

This is a downstream gene variant variant in the BHMT2 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

selenium amount

Cornelis MC et al. “Genome-wide association study of selenium concentrations.” Human Molecular Genetics 24(5):1469-77 (2015)
Allele T
OR —
p 1.0e-36
N 9,639
Large GWAS
European
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Research that mentions this SNP (1)

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Oral facial clefts and gene polymorphisms in metabolism of folate/one‐carbon and vitamin A: a pathway‐wide association study
AssociationN=425Abee L. Boyles et al.(2009)· Genetic Epidemiology

A pathway-wide association study in 425 case-parent triads examined 109 SNPs in 29 folate/one-carbon metabolism genes and 68 SNPs in 16 vitamin A metabolism genes for associations with cleft lip/palate (CL/P) and cleft palate only (CPO). Despite strong epidemiologic evidence that folic acid and vitamin A reduce cleft risk, no convincing genetic associations were found; the strongest association was FOLH1 with CPO (p=0.0008), but findings were fewer than expected by chance and inconsistent with protective effects of vitamin supplementation, suggesting vitamin metabolism gene polymorphisms do not play an etiologic role in oral facial clefts.

Traits studied:Cleft lip with or without cleft palateCleft palate onlyOral facial clefts
PubMedDOIMetascience Observatory

About BHMT2

Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

View all BHMT2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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