rs12138950
This is a regulatory region variant variant in the LOC105376817 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Thyroid stimulating hormone level
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 C
OR 0.12
p 2.0e-72
N 119,715
Large GWAS
European
thyroid gland volume
Teumer A et al. “Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.” American Journal of Human Genetics 88(5):664-73 (2011)
Allele A
OR 0.10
p 3.0e-18
N 3,620
Large GWAS
European
hyperthyroidism
Teumer A et al. “Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.” Nature Communications 9(1):4455 (2018)
Allele A
OR 0.26
p 6.0e-10
N 51,823
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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