rs11107116

This variant is located in the SOCS2 gene.

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GWAS Catalog Trait Associations (2)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele T
OR 0.05
p 1.0e-300
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
Lango Allen H et al. “Hundreds of variants clustered in genomic loci and biological pathways affect human height.” Nature 467(7317):832-8 (2010)
Allele T
OR —
β 0.052
p 1.0e-34
N 133,653
Large GWAS
European
Chiou JS et al. “Your height affects your health: genetic determinants and health-related outcomes in Taiwan.” Bmc Medicine 20(1):250 (2022)
Allele T
OR 0.04
p 1.0e-15
N 67,452
Large GWAS
East Asian
He M et al. “Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.” Human Molecular Genetics 24(6):1791-800 (2015)
Allele T
OR 0.04
p 6.0e-12
N 36,227
Meta-analysisLarge GWAS
East Asian
Weedon MN et al. “Genome-wide association analysis identifies 20 loci that influence adult height.” Nature Genetics 40(5):575-83 (2008)
Allele T
OR 0.04
p 6.0e-10
N 13,665
Large GWAS
European

type 2 diabetes mellitus

Xue A et al. “Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.” Nature Communications 9(1):2941 (2018)
Allele T
OR 0.05
p 4.0e-8
N 659,316
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci
AssociationN=3,571Shu-Feng Lei et al.(2009)· Human Genetics

Genome-wide association study in 618 Northern Chinese and replication in 2,953 Southern Chinese identified 13 contiguous SNPs in the ZNF510/ZNF782 region significantly associated with stature (P = 9.71×10^-5 to 3.11×10^-6, FDR q = 0.036-0.046). The most significant SNP rs10816533 replicated in Southern Chinese (P = 0.029, combined P = 1.55×10^-6), suggesting this is an ethnic-specific locus for height variation in Chinese populations.

Traits studied:Adult heightHuman stature
PubMedDOIMetascience Observatory

About SOCS2

This gene encodes a member of the suppressor of cytokine signaling (SOCS) family. SOCS family members are cytokine-inducible negative regulators of cytokine receptor signaling via the Janus kinase/signal transducer and activation of transcription pathway (the JAK/STAT pathway). SOCS family proteins interact with major molecules of signaling complexes to block further signal transduction, in part, by proteasomal depletion of receptors or signal-transducing proteins via ubiquitination. The expression of this gene can be induced by a subset of cytokines, including erythropoietin, GM-CSF, IL10, interferon (IFN)-gamma and by cytokine receptors such as growth horomone receptor. The protein encoded by this gene interacts with the cytoplasmic domain of insulin-like growth factor-1 receptor (IGF1R) and is thought to be involved in the regulation of IGF1R mediated cell signaling. This gene has pseudogenes on chromosomes 20 and 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

View all SOCS2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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