rs12980063

This variant is located in the CPT1C gene.

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GWAS Catalog Trait Associations (2)

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

hypothyroidism

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 1.07
p 2.0e-15
N 691,986
Large GWAS
European
Mathieu S et al. “Genetic association and Mendelian randomization for hypothyroidism highlight immune molecular mechanisms.” Iscience 25(9):104992 (2022)
Allele A
OR 0.06
p 5.0e-15
N 494,577
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.07
p 9.0e-15
N 394,626
Large GWAS
European

Thyroid preparation use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele G
OR 0.06
p 5.0e-11
N 305,582
Major Consortium StudyLarge 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 G
OR 0.05
p 8.0e-10
N 484,308
Large GWAS
multi-ancestry

About CPT1C

This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

View all CPT1C variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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