Haplotype
CYP2D6 *17 with related variants rs28371706 rs16947 rs1135840 CYP2D6 1661G>C/T

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.

? = Mouse-over for quick help

View the full haplotype translation table for CYP2D6

Variant Alelle
CYP2D6 14C>T
CYP2D6 18G>A
rs769258
rs28371696
rs1065852
CYP2D6 102A>G
rs5030862
CYP2D6 607G>A
rs28371703
rs28371704
rs28371706 A (differs from reference)
CYP2D6 1023C>A
CYP2D6 1036T>C
rs1135822
rs1135823
rs375135093
CYP2D6 1693A>G
rs5030655
rs28371710
CYP2D6 1735G>C
rs1135824
rs3892097
rs5030866
CYP2D6 1995delC
rs28371717
CYP2D6 2519A>C
rs35742686
rs5030656
rs16947 A (differs from reference)
rs5030867
rs28371725
rs59421388
rs28371733
rs1135840 G (differs from reference)
rs72549357
CYP2D6 2853A>C
rs78482768
rs61736512
CYP2D6 -1770 G>A
CYP2D6 -1740C>T
CYP2D6 '-1601_-1600GA>TT
CYP2D6 -1584C>G
CYP2D6 -1543 G>A
CYP2D6 '-1426C>T
CYP2D6 -1298G>A
CYP2D6 -1258_-1257insAAAAA
CYP2D6 -1253A>G
CYP2D6 -1245_-1244insGA
CYP2D6 -1238_-1237delAA
CYP2D6 -1237_-1236insAA/insA
CYP2D6 -1235A>G
CYP2D6 -1109C>T
CYP2D6 -1094_-1093insA
CYP2D6 -1028T>C
CYP2D6 -1011T>C
CYP2D6 -1000G>A
CYP2D6 -750_-749delGA
CYP2D6 -740C>T
CYP2D6 -695_-692delTGTG
CYP2D6 -678G>A
CYP2D6 -629A>G
CYP2D6 -377A>G
CYP2D6 '-175G>A
rs72552268
CYP2D6 73C>T
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
CYP2D6 883G>C
CYP2D6 887C>T
CYP2D6 957C>T
CYP2D6 972C>T
CYP2D6 997C>G
CYP2D6 1013G>A
rs76187628
CYP2D6 1022A>T
rs78459009
CYP2D6 1039C>T
CYP2D6 1062A>G
CYP2D6 1494T>C
CYP2D6 1513C>T
CYP2D6 1598A>G
CYP2D6 1608G>A
CYP2D6 1661G>C/T G (differs from reference)
CYP2D6 1720A>C/T
CYP2D6 1724C>T
CYP2D6 1757C>T
CYP2D6 1758G>T
rs5030865
rs67780109
rs72549356
CYP2D6 1869T>C
CYP2D6 1887insTA
rs72549355
rs72549354
CYP2D6 1978C>T
CYP2D6 1979T>C
CYP2D6 2097A>G
CYP2D6 2129A>C
CYP2D6 2291G>A
CYP2D6 2303C>T
CYP2D6 2308G>A
CYP2D6 2470T>C
CYP2D6 2480C>T
rs72549353
CYP2D6 2556C>T
CYP2D6 2573_2574insC
rs148769737
CYP2D6 2575C>A
CYP2D6 2576C>T
rs367543000
rs77913725
rs201830078
CYP2D6 2661G>A
rs72549351
CYP2D6 2828delC
CYP2D6 2927_2945delGATCCTACATCCGGATGTG
rs140513104
CYP2D6 2939G>A
CYP2D6 2950G>C
CYP2D6 3030G>G/A
rs72549348
CYP2D6 3181A>G
CYP2D6 3198C>G
CYP2D6 3254T>C
rs72549346
rs147960066
CYP2D6 3268T>C
CYP2D6 3277T>C
CYP2D6 3288G>A
rs75386357
CYP2D6 3334G>A
rs77312092
CYP2D6 3435C>A
CYP2D6 3491G>A
CYP2D6 3582A>G
CYP2D6 3584G>A
CYP2D6 3609G>T
CYP2D6 3790C>T
CYP2D6 3828G>A
CYP2D6 3835A>C
rs61737947
CYP2D6 3877G>C
rs72549345
CYP2D6 3895C>T
CYP2D6 4042G>A
CYP2D6 4044C>T
rs113940699
CYP2D6 4094C>A
CYP2D6 4110C>G
CYP2D6 4115C>T
CYP2D6 4125_4133dupGTGCCCACT
CYP2D6 4157T>G
CYP2D6 4388C>T
CYP2D6 4401C>T
CYP2D6 4481G>A
CYP2D6 4535insT
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 *14B/*21B -intron 1 conversion with CYP2D7 (214-245)
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 *63/*73/*84/*102/*103/*104*105 intron 1 conversion with CYP2D7 (214-245)
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 *88- intron 1 conversion with CYP2D7(214-247)

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

CYP2D6*17 is a reduced function allele of CYP2D6 [Article:8971426]. CYP2D6*17 was frequently misdiagnosed as CYP2D6*2 in the early studies of CYP2D6 genotyping, particularly in populations of African origin [Article:8971426]. Eventually, the discovery of additional SNPs allowed for the differentiation between CYP2D6*2, CYP2D6*17, and CYP2D6*29, another reduced function CYP2D6 haplotype. Copies of CYP2D6*17 would contribute towards an IM phenotype [Article:9415713] (see allele frequency table).


Allele frequency table

Population
\*1 \*2 \*3 \*4 \*5 \*6 \*9 \*10 \*17 \*29 \*41 UM References
European Caucasian
.33-.36 .22-.33 .01-.04 .12-.21 .02-.07 .01 0-.02 .01-.02 0 N/D N/D .02 [Articles:9241659, 9012401, 1681816, 7909282, 7697944, 9511177]
US Caucasian
.36-.40 .26-.37 .01-.02 .18-.23 .02-.05 .01 .02-.03 .02-.08 0 N/D N/D .01 [Articles:8098046, 9918137, 10634130, 11505219]
African American
.29-.35 .18-.27 0 .06-.08 .06-.07 0 0 .03-.08 .15-.23 N/D N/D .01-.05 [Articles:9918137, 11505219, 12152006, 8098046]
Chinese .23 .2 .01 .01 .06 N/D N/D .5-.7 N/D N/D N/D .01 [Article:8097442]
Japanese .42-.43 .09-.12 N/D .01 .05-.06 N/D N/D .38-.41 N/D N/D N/D N/D [Articles:10886115, 10975611, 10340923]
Malay .36
N/D N/D .03 .05 N/D .03 .50 .01 N/D N/D N/D [Article:11422605]
Inuit N/D N/D 0 .08 N/D N/D N/D .02 N/D N/D N/D .01 [Article:9164697]
Mexican .57 .23 .01 .10 .02 N/D N/D .07 .01 N/D N/D .02 [Article:11753272]
Ghanaian .44 .11 0 .07 .01 0 0 .03 .28 N/D N/D N/D [Article:10634134]
Gabonese .32 .44 N/D N/D .01 N/D N/D N/D .24 N/D N/D .03 [Article:10073750]
Zimbabwean N/D N/D 0 .02-.03 .04 N/D 0 .06 .34 N/D N/D N/D [Articles:7908586, 8911874]
Tanzanian .28 .2 0 .01 .06 0 0 .04 .17 N/D N/D .14 [Articles:10634133, 11470994, 11372584]
Ethiopean N/D N/D 0 .01 .03 N/D N/D .09 .1 N/D N/D N/D [Article:8764380]
Amerindian .66 .19 0 .04-.17 .04 .01 0 .02-.18 N/D N/D N/D .03 [Articles:10376769, 9731721]
Subsaharan Africa
.24 .33 0 .03 .06 0 0 .04 .12 .07 .03 .28 [Article:17301689]
North Africa
.12 .28 0 .12 .03 0 0 0 .08 0 .08 .07 [Article:17301689]
Middle Eastern
.35 .25 0 .07 .04 .01 0 .01 .02 0 .17 .02 [Article:17301689]
Europe .34 .29 0 .17 .03 .01 .03 .03 0 0 .07 .01 [Article:17301689]
Central/South Asia
.43 .29 0 .08 .04 0 0 .04 0 0 .11 .01 [Article:17301689]
East Asia
.31 .16 0 .03 .06 0 0 .4 0 0 .02 .12 [Article:17301689]
Oceania .72 0 0 0 .01 0 0 .03 0 0 0 .05 [Article:17301689]
Native American
.60 .30 0 .03 .01 0 0 0 .01 0 0 .05 [Article:17301689]
Drugs / Other Molecules
Diseases Cystic Fibrosis Depression Hypertension Neoplasms Pain Parkinson Disease Schizophrenia

Appendix

How many SNPs, indels, repeats define this haplotype? CYP2D6 haplotypes are typically determined by a genotyping algorithm. For the purposes of this VIP, we will define the SNPs that make up a haplotype from those SNPs which have variant pages. For fully defined CYP2D6 haplotypes, please see http://www.cypalleles.ki.se/cyp2d6.htm

CYP2D6*17 includes CYP2D6 2850C>T(rs16947) and CYP2D6 1023C>T (rs28371706)