rs2276890

This variant is located in the LIAS gene.

GWAS Catalog Trait Associations (1)

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

fibroblast growth factor 19 level

Allele G
OR 0.09
p 7.0e-55
N 47,745
Large GWAS
European

ClinVar annotation

Benign★★★
2 submitters1 publication
View on ClinVar →

About LIAS

The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. Localized in the mitochondrion, this iron-sulfur enzyme catalyzes the final step in the de novo pathway for the biosynthesis of lipoic acid, a potent antioxidant. The deficient expression of this enzyme has been linked to conditions such as diabetes, atherosclerosis and neonatal-onset epilepsy. Alternative splicing occurs at this locus, and several transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Aug 2020]

View all LIAS variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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