rs5030656

This is a in frame deletion variant in the CYP2D6 gene.

Key Literature Trait Associations

Codeine Response

CYP2D6*9 carries an in-frame deletion of lysine 281 (K281del) that reduces but does not eliminate CYP2D6 activity. CPIC classifies *9 as a decreased-function allele, meaning carriers are intermediate metabolizers when paired with a null allele. Intermediate metabolizers may have reduced codeine efficacy and altered metabolism of tamoxifen, antidepressants, and other CYP2D6 substrates.

Gierach M et al. “Insulin resistance and thyroid disorders.” Endokrynologia Polska 65(1):70-76 (2014)
Allele del
OR —
p —
Major Consortium Study
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Research that mentions this SNP (1)

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Interindividual Variability in the Hepatic Expression of the Human Breast Cancer Resistance Protein (BCRP/ABCG2): Effect of Age, Sex, and Genotype
AssociationN=1,000Bhagwat Prasad et al.(2013)· Journal of Pharmaceutical Sciences

Case-control study of 1,000 Han Chinese individuals (450 epilepsy cases, 550 controls) examining associations between STX1B polymorphisms and epilepsy treatment response. The rs140820592 variant showed significant association with reduced epilepsy risk (OR=0.542, p=0.004) and drug-resistant epilepsy risk (OR=0.260, p=0.004), with eQTL analysis confirming rs140820592 regulates STX1B expression in brain tissues.

Traits studied:Drug-resistant epilepsyDrug-responsive epilepsyEpilepsyImatinib response in chronic myelogenous leukemiaPraziquantel responseTacrolimus metabolism
PubMedDOIMetascience Observatory

Gene information from NCBI Gene. Variant classifications from ClinVar.

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