rs12533251

This is a intron variant variant in the ZKSCAN5 gene.

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GWAS Catalog Trait Associations (1)

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

X-18601 measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)

Allele A

OR —

β 0.057

p 2.0e-11

N 7,663

Large GWAS

European

About ZKSCAN5

This gene encodes a zinc finger protein of the Kruppel family. The protein contains a SCAN box and a KRAB A domain and may be involved in transcriptional regulation. A similar protein in mouse is differentially expressed in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

View all ZKSCAN5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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