Haplotype
CYP2C9 *3 with related variant rs1057910

Clinical Annotations

Clinical Variants that meet the highest level of criteria, manually curated by PharmGKB, are shown below. Please follow the link in the "Position" column for more information about a particular variant. Each link in the "Position" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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View the full haplotype translation table for CYP2C9

Variant Alelle
rs114071557
rs67807361
rs142240658
CYP2C9 121A>G
CYP2C9 146A>G
CYP2C9 208G>C
CYP2C9 226G>A
rs72558187
CYP2C9 287G>C
CYP2C9 293G>T
CYP2C9 329T>C
rs72558188
CYP2C9 356A>G
CYP2C9 370C>T
rs12414460
rs72558189
CYP2C9 389C>G
rs200965026
rs199523631
rs72558184
rs1799853
CYP2C9 445G>A
rs7900194
CYP2C9 449G>T
rs72558190
CYP2C9 488C>T
CYP2C9 610A>C
CYP2C9 620T>C
CYP2C9 641A>T
CYP2C9 664A>G
CYP2C9 679C>T
rs2256871
rs9332130
rs9332131
rs182132442
CYP2C9 850A>G
rs72558192
CYP2C9 896C>G
CYP2C9 949C>T
rs57505750
rs28371685
CYP2C9 1004G>A
CYP2C9 1029C>A
CYP2C9 1060G>A (may also have *2 430C>T)
rs1057910 C (differs from reference)
rs56165452
rs28371686
CYP2C9 1081C>A
CYP2C9 1144C>T
CYP2C9 1159A>G
rs72558193
CYP2C9 1362G>C
rs1057911
CYP2C9 1429G>A
rs9332239
CYP2C9 1468G>T
CYP2C9 1009C>A

Haplotype Annotations

PharmGKB haplotype annotations provide information about haplotype-drug pairs based on individual PubMed publications. Each annotation represents information from a single paper and the goal is to report the information that the author states, not an interpretation of the paper. The PMID for supporting PubMed publications is found in the "Evidence" field.

Information presented, including study size, allele frequencies and statistics is taken directly from the publication. However, if the author does not correct p-values in cases of multiple hypotheses, curators may apply a Bonferroni correction. Curators attempt to report study size based on the actual number of participants used for the calculation of the association statistics, so the number may vary slightly from what is reported in the abstract of the paper. OMB Race Category information is derived from the paper and mapped to standardized categories. Category definitions may be found by clicking on the "OMB Race Category" link.

There are direct annotations for this haplotype. Register or sign in to see them.

VIP Annotation

CYP2C9*3 is defined by the 359Ile>Leu SNP. Variant frequencies are less than 10% for every population and extremely rare in African populations. The low activity from *3 appears to be the result of decreased capacity to metabolize substrate (reduced Vmax, increased Km). The *3 variant has been shown to be associated with low warfarin dose requirement and risk for bleeding complications [Article:10073515].

Drugs / Other Molecules