rs1265112

This is a intron variant variant in the CCHCR1 gene.

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GWAS Catalog Trait Associations (1)

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

response to reverse transcriptase inhibitor

Chantarangsu S et al. “Genome-wide association study identifies variations in 6p21.3 associated with nevirapine-induced rash.” Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America 53(4):341-8 (2011)

Allele G

OR 4.36

p 1.0e-8

N 149

Small GWAS

South East Asian

About CCHCR1

This gene encodes a protein with five coiled-coil alpha-helical rod domains that is thought to act as a regulator of mRNA metabolism through its interaction with mRNA-decapping protein 4. It localizes to P-bodies, the site of mRNA metabolism, with an N-terminus that is required for this subcellular localization, suggesting it is a P-body component. Naturally occurring mutations in this gene are associated with psoriasis. [provided by RefSeq, May 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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