rs11130319

This is a intron variant variant in the NEK4 gene.

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GWAS Catalog Trait Associations (2)

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

body mass index

Akiyama M et al. “Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.” Nature Genetics 49(10):1458-1467 (2017)

Allele T

OR 0.02

p 4.0e-11

N 158,284

Large GWAS

multi-ancestry

protein measurement

Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)

Allele A

OR —

β 0.061

p 7.0e-9

N 21,758

Large GWAS

European

About NEK4

The protein encoded by this gene is a serine/threonine protein kinase required for normal entry into replicative senescence. The encoded protein also is involved in cell cycle arrest in response to double-stranded DNA damage. Finally, this protein plays a role in maintaining cilium integrity, and defects in this gene have been associated with ciliopathies. [provided by RefSeq, Jan 2017]

View all NEK4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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