rs7309325

This variant is located in the SH2B3 gene.

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GWAS Catalog Trait Associations (3)

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

platelet-to-lymphocyte ratio

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele G
OR —
p 3.0e-45
N 234,552
Large GWAS
European

platelet count

Burley K et al. “PIK3R3 is a candidate regulator of platelet count in people of Bangladeshi ancestry.” Research and Practice in Thrombosis and Haemostasis 7(4):100175 (2023)
Allele G
OR 0.08
p 3.0e-14
N 20,218
Large GWAS
South Asian
Yang Z et al. “Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia.” Blood 143(15):1528-1538 (2024)
Allele G
OR 0.12
p 2.0e-13
N 34,457
Large GWAS
East Asian

reaction time measurement

Schoeler T et al. “Participation bias in the UK Biobank distorts genetic associations and downstream analyses.” Nature Human Behaviour 7(7):1216-1227 (2023)
Allele T
OR 2.02
p 3.0e-8
N 282,217
Major Consortium StudyLarge GWAS
European

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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