rs147472287
This is a intron variant variant in the CPT1C gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
FEV/FVC ratio
Wyss AB et al. “Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function.” Nature Communications 9(1):2976 (2018)
Allele T
OR 0.05
p 3.0e-8
N 90,715
Meta-analysisLarge 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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…