rs12279250

This is a intron variant variant in the NELL1 gene.

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GWAS Catalog Trait Associations (1)

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

triglyceride measurement, trait in response to hydrochlorothiazide

Del-Aguila JL et al. “Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.” The Pharmacogenomics Journal 14(1):35-40 (2014)

Allele C

OR 28.20

p 7.0e-9

N 767

Small GWAS

multi-ancestry

About NELL1

This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

View all NELL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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