Haplotype
CYP2D6 *5 with related variants CYP2D6 14C>T rs148382141 rs769258 rs28371696 rs1065852 rs151226748 rs5030862 CYP2D6 607G>A rs28371703 rs28371704 rs28371706 CYP2D6 1023C>A rs1135821 rs1135822 rs1135823 rs375135093 CYP2D6 1693A>G rs5030655 rs28371710 CYP2D6 1735G>C rs1135824 rs3892097 rs139779104 CYP2D6 1995delC rs28371717 CYP2D6 2519A>C rs35742686 rs5030656 rs16947 rs5030867 rs28371725 rs59421388 rs28371733 rs1135840 CYP2D6 137_138insT CYP2D6 2853A>C rs78482768 rs61736512 rs1080983 rs58188898 rs267608286 rs1080985 rs76210340 rs28588594 rs59099247 rs28735595 CYP2D6 -1245_-1244insGA rs267608271 CYP2D6 -1094_-1093insA CYP2D6 -1028T>C rs59360719 rs1080989 CYP2D6 -750_-749delGA rs28624811 CYP2D6 -695_-692delTGTG rs28633410 CYP2D6 -629A>G CYP2D6 -377A>G rs1080993 rs72549358 rs267608313 rs138100349 rs118203758 CYP2D6 214G>C CYP2D6 221C>A CYP2D6 223C>G CYP2D6 227T>C CYP2D6 310G>T CYP2D6 601delC CYP2D6 746C>G CYP2D6 843T>G rs201377835 CYP2D6 887C>T rs267608310 rs267608309 rs28371705 rs267608308 rs76187628 CYP2D6 1022A>T rs78459009 rs1081003 rs267608289 rs267608306 rs67497403 rs267608305 rs374616348 rs1058164 CYP2D6 1720A>C/T rs74962936 rs199849357 CYP2D6 1758G>T rs5030865 rs370249680 CYP2D6 1863_1864ins(TTTCGCCCC)/1863_1864ins(TTTCGCCCC)2 rs111606937 CYP2D6 1887insTA rs72549355 rs72549354 rs150163869 rs199535154 rs58440431 rs267608290 rs267608300 rs79738337 CYP2D6 2308G>A CYP2D6 2470T>C rs267608298 rs72549353 rs267608297 CYP2D6 2573_2574insC rs148769737 rs28371718 CYP2D6 2576C>T rs367543000 rs77913725 rs201830078 rs76015180 rs72549351 rs267608279 CYP2D6 2927_2945delGATCCTACATCCGGATGTG rs140513104 rs79292917 rs72549349 CYP2D6 3030G>G/A rs72549348 CYP2D6 3181A>G CYP2D6 3198C>G rs28371726 CYP2D6 3259_3260insGT rs147960066 rs267608294 CYP2D6 3277T>C rs150552908 rs75386357 rs77312092 rs1985842 rs28371729 rs267608292 rs2004511 rs28371730 rs267608322 rs116917064 rs28371732 rs267608285 rs61737947 CYP2D6 3877G>C rs72549345 CYP2D6 3895C>T CYP2D6 4042G>A CYP2D6 4044C>T rs113940699 CYP2D6 4094C>A CYP2D6 4110C>G rs150445731 CYP2D6 4125_4133dupGTGCCCACT CYP2D6 4157T>G CYP2D6 4388C>T rs28371738 rs116390392 rs372465406 CYP2D6 Variable number of A's in the region -1258 to -1237a CYP2D6 *2A CYP2D7 gene conversion in intron 1 CYP2D6 *2M CYP2D7 gene conversion in intron 1 CYP2D6 *4N gene conversion to CYP2D7 in exon 9 CYP2D6 *10D CYP2D7-like 3'-flanking region CYP2D6 *13 CYP2D7/2D6 hybrid gene structure-varies depending upon exact variant(e.g. *13A1);all include 137_138insT, leading to obliteration of activity. CYP2D6 *31 CYP2D7 gene conversion in intron 1 CYP2D6 *35B CYP2D7 conversion upstream of exon 1 CYP2D6 *36 gene conversion to CYP2D7 in exon 9 CYP2D6 *41 CYP2D7 gene conversion in intron 1 CYP2D6 *51 CYP2D7 gene conversion in intron 1 CYP2D6 *56A CYP2D7 gene conversion in intron 1 CYP2D6 *57 gene conversion to CYP2D7 in exon 9 CYP2D6 *58 CYP2D7 gene conversion in intron 1 CYP2D6 *61 CYP2D7 seq from intron 7 onwards CYP2D6 more than 1 copy of the specified allele CYP2D6 *63 CYP2D7 sequence from exon 8 onwards CYP2D6 *68A CYP2D7 sequence from intron 1 onwards CYP2D6 *68B-Similar but not identical switch region compared to CYP2D6*68A CYP2D6 *82-CYP2D7 gene conversion in exon 2 CYP2D6 *83-gene conversion to CYP2D7 in exon 9 CYP2D6 Intron 1 conversion with CYP2D7 (214-245)

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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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.

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