rs2993047

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GWAS Catalog Trait Associations (2)

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

Thyroid stimulating hormone level

Rand SA et al. “Genome-wide association study and polygenic risk prediction of hypothyroidism.” Nature Genetics 57(12):3007-3015 (2025)

Allele A

OR 0.03

p 2.0e-52

N 482,873

Large GWAS

European

Figuerêdo J et al. “Uncovering the shared genetic components of thyroid disorders and reproductive health.” European Journal of Endocrinology 191(2):211-222 (2024)

Allele A

OR 0.03

p 2.0e-15

N 164,818

Large GWAS

European

Zhou W et al. “GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer.” Nature Communications 11(1):3981 (2020)

Allele A

OR 0.03

p 4.0e-12

N 119,715

Large GWAS

European

Graves disease

White SL et al. “Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.” Nature Genetics 58(2):307-316 (2026)

Allele A

OR 0.10

p 2.0e-13

N 1,881,665

Large GWAS

European

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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