rs12327715
This is a regulatory region variant variant in the CBLC gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
linoleic acid measurement
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele A
OR —
p 8.0e-25
N 239,268
Large GWAS
European
familial hyperlipidemia
Trinder M et al. “Polygenic architecture and cardiovascular risk of familial combined hyperlipidemia.” Atherosclerosis 340:35-43 (2022)
Allele G
OR 0.25
p 2.0e-11
N 349,222
Large GWAS
European
fatty acid amount
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele A
OR —
p 1.0e-9
N 239,268
Large GWAS
European
omega-6 polyunsaturated fatty acid measurement
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele A
OR —
p 5.0e-22
N 239,268
Large GWAS
European
polyunsaturated fatty acid measurement
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele A
OR —
p 1.0e-12
N 128,922
Large GWAS
European
About CBLC
This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. Expression of this gene may be restricted to epithelial cells, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
View all CBLC variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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