rs5030862

This is a missense variant in the CYP2D6 gene.

Key Literature Trait Associations

Codeine Response

CYP2D6*12 carries a G212E substitution that causes complete loss of CYP2D6 enzyme function. Although a very rare null allele, it has the same clinical impact as the more common *4 — carriers are poor metabolizers unable to activate prodrugs like codeine and tramadol. CPIC guidelines for poor metabolizers apply regardless of which specific null allele is present.

Gierach M et al. “Insulin resistance and thyroid disorders.” Endokrynologia Polska 65(1):70-76 (2014)
Allele A
OR —
p —
Major Consortium Study
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ClinVar annotation

Likely Benign★★★☆
2 submitters
View on ClinVar →
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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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