rs478667

This variant is located in the BHMT gene.

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GWAS Catalog Trait Associations (1)

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

serum metabolite level

Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)

Allele G

OR 0.20

p 7.0e-15

N 3,926

Large GWAS

Hispanic or Latin American

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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