rs3803170

This variant is located 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.

mean corpuscular hemoglobin

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele G

OR 0.03

p 4.0e-9

N 172,332

Large GWAS

European

platelet count

Yang Z et al. “Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia.” Blood 143(15):1528-1538 (2024)

Allele A

OR 0.12

p 3.0e-25

N 72,816

Large GWAS

East Asian

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Research that mentions this SNP (1)

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Linkage disequilibrium mapping of bipolar affective disorder at 12q23‐q24 provides evidence for association at CUX2 and FLJ32356

AssociationN=721Beate Glaser et al.(2005)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This LD mapping study identified significant associations between bipolar affective disorder and genetic markers on chromosome 12q23-q24. Two SNPs (rs3847953, P=0.002 and rs933399, P=0.004) and an insertion/deletion (rs3840795, P=0.005) in regions containing CUX2 and FLJ32356 genes showed significant association after Bonferroni correction in 347 bipolar cases and 374 controls.

Traits studied:Bipolar I disorderBipolar affective disorder

PubMed DOI Metascience Observatory

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]