rs12446589

This is a downstream gene variant variant in the SH2B1 gene.

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GWAS Catalog Trait Associations (2)

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

forced expiratory volume

Shrine N et al. “New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.” Nature Genetics 51(3):481-493 (2019)

Allele A

OR 0.01

p 3.0e-8

N 321,047

Large GWAS

European

mathematical ability

Lee JJ et al. “Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.” Nature Genetics 50(8):1112-1121 (2018)

Allele A

OR 0.02

p 3.0e-27

N 564,698

Large GWAS

European

About SH2B1

This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

View all SH2B1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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