rs1802288

This is a protein-altering variant in the TSPAN6 gene.

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GWAS Catalog Trait Associations (6)

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

Thyroid stimulating hormone level

Williams AT et al. “Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease.” Nature Communications 14(1):6713 (2023)
Allele T
OR 0.03
p 1.0e-19
N 247,107
Large GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Kanoni S et al. “Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.” Genome Biology 23(1):268 (2022)
Allele T
OR 0.02
p 7.0e-16
N 749,391
Meta-analysisLarge GWAS
multi-ancestry

gout

Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)
Allele T
OR 1.04
p 3.0e-13
N 2,206,883
Large GWAS
European

total cholesterol measurement

Kanoni S et al. “Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.” Genome Biology 23(1):268 (2022)
Allele T
OR 0.01
p 3.0e-11
N 749,391
Meta-analysisLarge GWAS
multi-ancestry

cardiovascular measurement

Kany S et al. “Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk.” Nature Genetics 58(1):47-56 (2026)
Allele C
OR 0.04
p 3.0e-10
N 59,569
Large GWAS
European

About TSPAN6

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The protein encoded by this gene is a cell surface glycoprotein and is highly similar in sequence to the transmembrane 4 superfamily member 2 protein. It functions as a negative regulator of retinoic acid-inducible gene I-like receptor-mediated immune signaling via its interaction with the mitochondrial antiviral signaling-centered signalosome. This gene uses alternative polyadenylation sites, and multiple transcript variants result from alternative splicing. [provided by RefSeq, Jul 2013]

View all TSPAN6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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