rs9497965

This is a intergenic variant variant in the SASH1 gene.

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GWAS Catalog Trait Associations (5)

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

thyroglobulin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.07
p 2.0e-33
N 47,745
Large GWAS
European

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 4.0e-31
N 247,107
Large GWAS
multi-ancestry
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 T
OR 0.04
p 1.0e-23
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 T
OR 0.04
p 1.0e-17
N 119,715
Large GWAS
European

hypothyroidism

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 T
OR 0.08
p 3.0e-92
N 1,786,062
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.08
p 4.0e-16
N 583,911
Large GWAS
multi-ancestry

About SASH1

This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, apoptosis, and invasion of cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016]

View all SASH1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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