Table 2: [The AMP Tier 1 and Tier 2 CYP2D6 Star Alleles and Reported Population-Specific Frequencies.]. - Medical Genetics Summaries

Warning: The NCBI web site requires JavaScript to function. more...

Table 2:

The AMP Tier 1 and Tier 2 CYP2D6 Star Alleles and Reported Population-Specific Frequencies.

	Star allele	Core SNPs	AS	African (%)	European (%)	Asian (%)	Latino (%)	Other ^# (%)
Tier 1	*2	rs16947, rs1135840	1	16–20	28	12–29
	*3	rs35742686	0	<1	1.60	<1
	*4	rs3892097	0	3–5	18.50	0.5–9.1
	*5	Gene Deletion	0	3–5	3–5	3–5
	*6	rs5030655	0	0.50	1	0.50
	*9	rs5030656	0.5	<0.5	2.80	<0.5	1.60
	*10	rs1065852, rs1135840	0.25	4–6	<2	9–44
	*17	rs28371706, rs16947, rs1135840	0.5	17–19	<0.5	<0.5	2.30
	*29	rs59421388, rs61736512 + rs1058164, rs16947, rs1135840	0.5	9–12	<0.5	<0.5	1.50
	*41	rs28371725, rs16947, rs1135840	0.5	4–11.5	9	2–12
	(any)xN	Gene duplication	ASxN	Freq. and AS varies based on the specific allele that is duplicated
Tier 2	*7	rs5030867	0	<0.05	<0.05	0.01–0.6
	*8	rs5030865, rs16947, rs1135840	0		0.02			American: 0.1
	*12	rs5030862, rs16947, rs1135840	0	0.08–0.3	0.02			Indigenous American: 1.7
	*14	rs5030865, rs16947, rs1135840	0.5			0.30
	*15	rs774671100	0	0.60	<0.05	<0.05
	*21	rs72549352, rs16947, rs1135840	0			0.40
	*31	rs267608319, rs16947, rs1135840	0	<0.1	<1	<0.1	<1
	*40	rs72549356, rs28371706, rs16947, rs1135840	0	0.5–1.3	<0.1
	*42	rs72549346, rs16947, rs1135840	0	<0.5		<0.5 (Central/South Asian)
	*49	rs1135822, rs1065852, rs1135840	0.5			1 (East Asians)
	*56	rs72549347, rs1135840	0	<0.2	<0.2
	*59	rs79292917, rs16947, rs1135840	0.5		0.70
	Hybrid Genes	Variable	0	<1	<1	1 (East Asians)

: AMP: Association for Molecular Pathology. SNP: Single Nucleotide Polymorphism; the underlined SNP (rs) identifiers are the variant(s) associated with altered function. AS: Activity score. (any)xN: any star allele duplicated N-many times. Frequency of the specific allele for the indicated population is given in percentage. ^# The specific population is stated before the allele frequency. Table is adapted from (17).

From: CYP2D6 Overview: Allele and Phenotype Frequencies

Medical Genetics Summaries [Internet].

Pratt VM, Scott SA, Pirmohamed M, et al., editors.

Bethesda (MD): National Center for Biotechnology Information (US); 2012-.

All Medical Genetics Summaries content, except where otherwise noted, is licensed under a Creative Commons Attribution 4.0 International (CC BY 4.0) license which permits copying, distribution, and adaptation of the work, provided the original work is properly cited and any changes from the original work are properly indicated. Any altered, transformed, or adapted form of the work may only be distributed under the same or similar license to this one.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.