rs569393059

This variant is located in the SETD2 gene.

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GWAS Catalog Trait Associations (1)

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

ghrelin measurement

Meeks KAC et al. “Genome-wide analyses of multiple obesity-related cytokines and hormones informs biology of cardiometabolic traits.” Genome Medicine 13(1):156 (2021)

Allele A

OR 0.92

p 2.0e-8

N 1,536

Large GWAS

multi-ancestry

About SETD2

Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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