rs2078863

This is a intron variant variant in the SH2B3 gene.

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GWAS Catalog Trait Associations (2)

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

neuroimaging measurement

Fu J et al. “Cross-ancestry genome-wide association studies of brain imaging phenotypes.” Nature Genetics 56(6):1110-1120 (2024)
Allele C
OR 0.06
p 4.0e-9
N 7,058
Large GWAS
East Asian

About SH2B3

This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]

View all SH2B3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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