rs7043199

This is a regulatory region variant variant in the VLDLR gene.

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GWAS Catalog Trait Associations (1)

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

vascular endothelial growth factor A level

Choi SH et al. “Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies.” Plos Genetics 12(2):e1005874 (2016)

Allele A

OR 0.10

p 4.0e-14

N 13,312

Meta-analysisLarge GWAS

European

About VLDLR

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009]

View all VLDLR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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