rs4780355

This is a regulatory region variant variant in the SOCS1 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

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele C

OR 0.02

p 7.0e-17

N 408,112

Large GWAS

European

psoriasis, Crohn's disease

Ellinghaus D et al. “Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci.” American Journal of Human Genetics 90(4):636-47 (2012)

Allele T

OR 1.16

p 1.0e-13

N 15,131

Large GWAS

European

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ClinVar annotation

no_classification_for_the_single_variant

View on ClinVar →

About SOCS1

This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by a subset of cytokines, including IL2, IL3 erythropoietin (EPO), CSF2/GM-CSF, and interferon (IFN)-gamma. The protein encoded by this gene functions downstream of cytokine receptors, and takes part in a negative feedback loop to attenuate cytokine signaling. Knockout studies in mice suggested the role of this gene as a modulator of IFN-gamma action, which is required for normal postnatal growth and survival. [provided by RefSeq, Jul 2008]