rs12691202
This variant is located in the APOB 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.
apolipoprotein B measurement
low density lipoprotein cholesterol measurement
total cholesterol measurement
▶ClinVar annotation
not specified; Hypercholesterolemia, familial, 1; Familial hypobetalipoproteinemia 1; Familial hypercholesterolemia; not provided; Hypercholesterolemia, autosomal dominant, type B; Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia 1; Cardiovascular phenotype
View on ClinVar →About APOB
This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Dec 2019]
View all APOB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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