rs368334049

This variant is located in the SBDS gene.

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GWAS Catalog Trait Associations (1)

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

smoking initiation

Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)

Allele C

OR 0.02

p 9.0e-19

N 3,382,012

Large GWAS

European, East Asian, Hispanic or Latin American, African unspecified

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ClinVar annotation

Benign★☆☆☆

1 submitter

not specified

View on ClinVar →

About SBDS

This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017]

View all SBDS variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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