rs6590474

This is a intron variant variant in the CNTN5 gene.

Research that mentions this SNP (1)

Genetic variants associated with disordered eating
AssociationN=2,564Tracey D. Wade et al.(2013)· International Journal of Eating Disorders

This GWAS examined genetic variants associated with disordered eating in 2,564 female twins using four eating disorder phenotypes (anorexia nervosa spectrum, bulimia nervosa spectrum, purging via substances, and disordered eating behaviors). Six regions reached suggestive significance (p<5×10⁻⁷), implicating CLEC5A, LOC136242, TSHZ1, and SYTL5 for anorexia nervosa spectrum; NT5C1B for bulimia nervosa spectrum; and ATP8A2 for disordered eating behaviors. No variants reached genome-wide significance at p<10⁻⁸.

Traits studied:Anorexia nervosa spectrumBulimia nervosa spectrumDisordered eating behaviorsEating disordersPurging via substances

About CNTN5

The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

View all CNTN5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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