rs1534166

This is a intron variant variant in the SRPRB gene.

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GWAS Catalog Trait Associations (2)

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

n-acetylated-alpha-linked acidic dipeptidase 2 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)

Allele G

OR —

β 0.280

p 2.0e-24

N 3,301

Large GWAS

European

alcohol drinking

Kutalik Z et al. “Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.” Human Molecular Genetics 20(18):3710-7 (2011)

Allele A

OR 0.29

p 2.0e-17

N 5,181

Large GWAS

European

About SRPRB

The protein encoded by this gene has similarity to mouse protein which is a subunit of the signal recognition particle receptor (SR). This subunit is a transmembrane GTPase belonging to the GTPase superfamily. It anchors alpha subunit, a peripheral membrane GTPase, to the ER membrane. SR is required for the cotranslational targeting of both secretory and membrane proteins to the ER membrane. [provided by RefSeq, Jul 2008]

View all SRPRB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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