rs2564962

This is a intron variant variant in the SFMBT1 gene.

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GWAS Catalog Trait Associations (1)

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

carnitine measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)

Allele T

OR 0.07

p 2.0e-10

N 14,296

Large GWAS

European

About SFMBT1

This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. [provided by RefSeq, Jun 2012]

View all SFMBT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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