rs2229291
This variant is located in the CPT2 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.
glutarylcarnitine (C5-DC) measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.43
p 7.0e-14
N 10,604
Large GWAS
multi-ancestry
adipoylcarnitine (C6-DC) measurement, parental genotype effect measurement
He Q et al. “A genome-wide association study of neonatal metabolites.” Cell Genomics 4(10):100668 (2024)
Allele G
OR 0.14
p 3.0e-13
N 8,744
Large GWAS
East Asian
serum metabolite level
Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)
Allele T
OR 0.47
p 9.0e-12
N 3,926
Large GWAS
Hispanic or Latin American
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter13 publicationsCarnitine palmitoyltransferase II deficiency
View on ClinVar →About CPT2
The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]
View all CPT2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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