Table 3.
Frequency of alleles by ethnicity.
| African American | Asian | Caucasian | Hispanic | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Allele | N | Obs freq %† | Exp freq (Avg)‡ | Exp freq (Min–Max)‡ | N | Obs freq %† | Exp freq (Avg)‡ | Exp freq (Min–Max)‡ | N | Obs freq %† | Exp freq (Avg)‡ | Exp freq (Min–Max)‡ | N | Obs freq %† | Exp freq (Avg)‡ | Exp freq (Min–Max)‡ | |
| (A) ALLELES WITH A SINGLE CYP2D6 GENE COPY | |||||||||||||||||
| NO FUNCTION | *3 | 46 | 0.3 | 0.3 | 0–0.6 | 2 | 0.4# | 0.01 | 0–0.03 | 1,188 | 1.6 | 1.3 | 0.5–2.2 | 33 | 0.8# | 0.3 | 0–0.6 |
| *4 | 540 | 4.0 | 6.2 | 3.9–8 | 26 | 5.2 | 2.3 | 0–10.8 | 1,4062 | 18.7 | 19.4 | 17.5–21.0 | 527 | 12.7 | 15.9 | 10.0–20.6 | |
| *4N | 3 | 0.02 | –§ | –§ | 0 | 0 | –§ | –§ | 31 | 0.04 | –§ | –§ | 1 | 0.02 | –§ | –§ | |
| *6 | 35 | 0.3 | 0.2 | 0–0.6 | 1 | 0.2 | 0.02 | 0–0.5 | 864 | 1.2 | 1.2 | 1–1.7 | 29 | 0.7# | 0.2 | 0–0.4 | |
| *36 | 62 | 0.5 | 0.6 | 0–1.0 | 22 | 4.4 | 1.5 | 0–16.4 | 12 | 0.02 | 0 | 0 | 1 | 0.2 | –§ | –§ | |
| Total | 686 | 5.1 | 51 | 10.2 | 1,6157 | 21.6 | 591 | 14.4 | |||||||||
| DECREASED FUNCTION | *9 | 60 | 0.4 | 0.5 | 0–1.2 | 4 | 0.8 | 0.2 | 0–3.3 | 2,150 | 2.9 | 2.6 | 1.7–3.0 | 69 | 1.7 | 1.1 | 1.1 |
| *10 | 498 | 3.7 | 4.2 | 2.7–7.5 | 46 | 9.2 | 37.4 | 3.8–64.1 | 1,034 | 1.4 | 2.9 | 1.0–8.0 | 57 | 1.4 | 6.2 | 1.0–14.9 | |
| *17 | 2,266 | 16.8 | 18.2 | 13.7–26.0 | 1 | 0.2 | 0.1 | 0–1.0 | 200 | 0.3 | 0.3 | 0.1–0.4 | 77 | 1.9 | 1.2 | 0.2–2.0 | |
| *29 | 1,264 | 9.4# | 6.5 | 5.0–7.7 | 0 | 0 | 0.02 | 0–0.2 | 71 | 0.1 | 0.1 | 0.02–0.1 | 66 | 1.6 | 0.2 | 0.2 | |
| *41 | 338 | 2.5 | 9.4 | 1.8–14.9 | 22 | 4.4 | 3.1 | 0–12.5 | 7,175 | 9.6 | 8.5 | 7.6–9.8 | 238 | 5.7 | 5.5 | 5.5 | |
| Total | 4,426 | 32.7 | 73 | 14.5 | 1,0630 | 14.2 | 507 | 12.2 | |||||||||
| NORMAL FUNCTION | *1 | 4,493 | 33.2 | 34.0 | 30.6–36.2 | 168 | 33.5 | 36.5 | 17.5–93.8 | 28,036 | 37.3 | 37.9 | 33.5–41.9 | 1,902 | 45.9 | 32.7 | 10.3–55.1 |
| *2 | 1,573 | 11.6 | 14.2 | 4.2–28.7 | 1 | 0.2# | 16.7 | 7.7–42.7 | 192 | 0.3# | 25.4 | 15.9–33.7 | 53 | 1.3# | 33.8 | 22.0–45.6 | |
| *2A | 689 | 5.1 | –§ | –§ | 55 | 11.0 | –§ | –§ | 11,717 | 15.6 | –§ | –§ | 708 | 17.1 | 15.4 | 10.7–20 | |
| *35 | 120 | 0.9 | 0.8 | 0.4–1.1 | 5 | 1.0# | 0.1 | 0–0.9 | 4,189 | 5.6 | 4.8 | 4.8 | 123 | 3.0 | –§ | –§ | |
| Total | 6,875 | 50.8 | 229 | 45.6 | 4,4132 | 58.7 | 2,786 | 67.2 | |||||||||
| (B) STRUCTURAL VARIANTS | |||||||||||||||||
| NO FUNCTION | *3xN | 0 | 0 | –§ | –§ | 0 | 0 | –§ | –§ | 5 | 0.01 | –§ | –§ | 2 | 0.05 | –§ | –§ |
| *4xN | 387 | 2.8 | 2.1 | 0.3–4.1 | 1 | 0.2 | 0.03 | 0–0.3 | 622 | 0.8 | 0.3 | 0.1–0.4 | 21 | 0.5 | 0.2 | 0.2 | |
| *5 | 710 | 5.3 | 6.1 | 2.8–8.7 | 14 | 2.8 | 4.9 | 0–15.8 | 2,332 | 3.1 | 2.5 | 0–3.8 | 118 | 2.9 | 2.8 | 1.7–4.6 | |
| *6xN | 0 | 0 | 0.2 | 0–0.7 | 0 | 0 | 0 | 0 | 3 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| *36xN | 1 | 0.01 | 0 | 0 | 27 | 5.4# | 0.3 | 0–0.7 | 1 | 0 | 0 | 0 | 2 | 0.05 | –§ | –§ | |
| Total | 1,098 | 8.3 | 42 | 8.4 | 2,963 | 3.9 | 141 | 3.5 | |||||||||
| DECREASED FUNCTION | *9xN | 0 | 0 | –§ | –§ | 0 | 0 | –§ | –§ | 6 | 0.01 | –§ | –§ | 0 | 0 | –§ | –§ |
| *10xN | 8 | 0.1 | 0.1 | 0–0.6 | 42 | 8.4# | 0.3 | 0–1.0 | 11 | 0.01 | 0 | 0 | 2 | 0.05 | 0 | 0 | |
| *17xN | 25 | 0.2 | 0.2 | 0–0.7 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| *29xN | 18 | 0.1 | 0.2 | 0–0.7 | 0 | 0 | 0 | 0 | 3 | 0 | 0 | 0 | 1 | 0.02 | –§ | –§ | |
| *36-*10 | 21 | 0.2 | 0.3 | 0.3 | 52 | 10.4# | 26.4 | 22.5–32.7 | 43 | 0.1 | 0 | 0 | 10 | 0.2 | –§ | –§ | |
| *36-*10xN | 1 | 0.01 | –§ | –§ | 1 | 0.2 | 0.1 | 0–0.2 | 1 | 0 | –§ | –§ | 0 | 0 | –§ | –§ | |
| *36xN-*10 | 0 | 0 | –§ | –§ | 2 | 0.4 | 0.8 | 0–1.3 | 2 | 0.0 | –§ | –§ | 0 | 0 | –§ | –§ | |
| *41xN | 3 | 0.02 | 0.3 | 0–1.2 | 0 | 0 | 0.03 | 0–0.2 | 18 | 0.02 | 0.1 | 0–0.1 | 0 | 0 | 0 | 0 | |
| Total | 76 | 0.6 | 97 | 19.3 | 84 | 0.1 | 13 | 0.3 | |||||||||
| NORMAL FUNCTION | *1xN | 109 | 0.8 | 0.4 | 0–1.2 | 5 | 1 | 0.3 | 0–0.6 | 602 | 0.8 | 0.3 | 0–0.7 | 32 | 0.8 | 0 | 0 |
| *2xN | 21 | 0.2 | 1.6 | 0.2–2.4 | 0 | 0 | 0.5 | 0–1.6 | 75 | 0.1# | 0.6 | 0.5–0.8 | 2 | 0.05# | 0.6 | 0.6 | |
| *2AxN | 232 | 1.7 | –§ | –§ | 5 | 1 | –§ | –§ | 460 | 0.6 | –§ | –§ | 65 | 1.6 | –§ | –§ | |
| *35xN | 1 | 0.01 | 0 | 0 | 0 | 0 | 0 | 0 | 37 | 0.05 | 0.1 | 0–0.2 | 7 | 0.2 | –§ | –§ | |
| Total | 363 | 2.7 | 10 | 2 | 1,174 | 1.6 | 106 | 2.6 | |||||||||
Observed frequencies (Obs Freq) calculated as the proportion out of the total number of alleles (structural variants and alleles with a single copy combined).
Expected frequencies (Exp Freq) from CPIC6 (unless otherwise specified). While African American and Caucasian expected frequencies were identified from US cohorts, expected frequencies in Asians were selected from Chinese, Japanese, and Indian populations, and Hispanic expected frequencies were identified from Mexican American populations. Numbers have been rounded to one decimal unless frequency ≤ 0.05.
No published frequency data were available.
Expected frequency is not within range of published literature.
CNVs, copy number variations. N denotes 2 or more gene copies.