Annotation of rs17183814

Allele A is not associated with response to carbamazepine or valproic acid in people with Epilepsy as compared to allele G.

No significant association was found with this SNP and response to epilepsy drugs after 1000 permutation testing for each marker or haplotype and Bonferroni correction.

Gene

SCN2A

Variant

rs17183814

Phenotype Category

Efficacy

Association Significance

The study reports this association is not significant

PharmGKB ID

1183614112

Evidence for Clinical Annotations

This annotation has been used as evidence for the following clinical annotations.

    Study Parameters

    Study type

    cohort

    Study size

    1430

    Association p-value

    = 0.81

    Allele frequency

    A=0.21

    Biogeographical group
    More info on groups

    Multiple groups, 701 patients from Malaysia (Malay, Chinese or Indian), 803 patients from Hong Kong (Han Chinese).

    Population description

    Study Cohort: Comparison of allele frequencies/ genotype frequencies in responders vs non-responders. Drug response defined as completely seizure-free for at least 1 year during monotherapy treatment. Drug resistance defined as a seizure occurring within 1 year period of treatment.

    Note: Alleles in PharmGKB are mapped to the positive chromosomal strand. Therefore, variants in genes on the "minus" strand (eg. VKORC1) are complemented in PharmGKB annotations.

    History

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