rs17104363

This is a 3 prime utr variant variant in the GPHN gene.

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GWAS Catalog Trait Associations (1)

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

energy intake

Comuzzie AG et al. “Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.” Plos One 7(12):e51954 (2012)

Allele G

OR —

β 0.040

p 5.0e-8

N 1,078

Large GWAS

Hispanic or Latin American

About GPHN

This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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