rs243332

This is a regulatory region variant variant in the SOCS1 gene.

GWAS Catalog Trait Associations (6)

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

platelet component distribution width

Allele T
OR 0.02
p 8.0e-25
N 394,642
Large GWAS
European

reticulocyte count

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.02
p 6.0e-16
N 408,112
Large GWAS
European

reticulocyte amount

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.02
p 1.0e-14
N 408,112
Large GWAS
European

psoriasis

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.09
p 7.0e-13
N 629,965
Major Consortium StudyLarge GWAS
multi-ancestry

psoriasis vulgaris

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.09
p 3.0e-12
N 631,875
Major Consortium StudyLarge GWAS
multi-ancestry

platelet count

Allele C
OR 0.02
p 8.0e-28
N 928,679
Large GWAS
multi-ancestry
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.01
p 3.0e-9
N 499,097
Large GWAS
multi-ancestry
Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.04
p 5.0e-37
N 406,601
Major Consortium StudyLarge GWAS
European

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]

View all SOCS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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