rs739496

This is a downstream gene 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.

platelet count

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.12
p 8.0e-159
N 148,623
Large GWAS
East Asian
Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)
Allele G
OR 0.14
p 5.0e-19
N 14,806
Large GWAS
East Asian
Oh JH et al. “Genome-wide association study identifies candidate Loci associated with platelet count in koreans.” Genomics & Informatics 12(4):225-30 (2014)
Allele G
OR 8.25
p 7.0e-12
N 8,842
Large GWAS
East Asian

primary biliary cirrhosis

Cordell HJ et al. “An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.” Journal of Hepatology 75(3):572-581 (2021)
Allele A
OR 0.16
p 6.0e-10
N 31,288
Meta-analysisLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects
AssociationN=13,582Khader Shameer et al.(2014)· Human Genetics

A genome-wide association study (GWAS) of platelet count (PLT) and mean platelet volume (MPV) in 13,582 and 6,291 participants respectively from the eMERGE network identified 5 chromosomal regions associated with PLT and 8 with MPV at genome-wide significance (P<5E-8). Key findings include variants in ARHGEF3 (rs1354034, P=6E-24 for PLT; P=9E-34 for MPV), SH2B3 (rs3184504, P=5E-12), and multiple other loci. The study replicated 20 SNPs for PLT and 22 for MPV from prior meta-analyses and demonstrated pleiotropic effects with myocardial infarction, autoimmune, and hematologic disorders through phenome-wide association study (PheWAS).

Traits studied:Autoimmune disordersBlood pressureEosinophil countHematologic disordersMean platelet volume (MPV)Myocardial infarctionPlatelet count (PLT)Type 1 diabetes
PubMedDOIMetascience 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]

View all SH2B3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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