CYP2C19 Allele and Genotype Frequencies
Available polymorphism(s)
|
Common Designations |
|
|
rs number
|
Nucleotide change |
Amino acid change |
Genotyping method
|
| rs4986893 |
Ex4-7G>A |
Trp212Stp |
MGB Eclipse |
| rs4986894 |
-97T>C |
|
TaqMan |
| Variant |
Race-ethnicity |
Allele
% (95% CI) |
Chi-square
P-value† |
Genotype
% (95% CI) |
Chi-square
P-value† |
HW
P-value‡ |
| rs4986893 |
|
A |
G |
|
AA |
AG |
GG |
|
|
| Non-Hispanic White |
0.1 (0.1, 0.2) |
99.9 (99.8, 99.9) |
0.744 |
0.0 (NA) |
0.2 (0.1, 0.5) |
99.8 (99.5, 99.9) |
0.830 |
0.94 |
| Non-Hispanic Black |
0.2 (0.1, 0.4) |
99.8 (99.6, 99.9) |
0.0 (NA) |
0.3 (0.1, 0.8) |
99.7 (99.2, 99.9) |
0.95 |
| Mexican American |
0.1 (0.0, 0.3) |
99.9 (99.7, 100.0) |
0.0 (NA) |
0.2 (0.1, 0.5) |
99.8 (99.5, 99.9) |
0.96 |
| Total* |
0.2 (0.1, 0.5) |
99.8 (99.5, 99.9) |
|
0.0 (0.0, 0.1) |
0.4 (0.2, 0.9) |
99.6 (99.1, 99.8) |
|
|
| rs4986894 |
|
C |
T |
|
CC |
CT |
TT |
|
|
| Non-Hispanic White |
13.7 (12.5, 14.9) |
86.3 (85.1, 87.5) |
<0.001 |
1.9 (1.4, 2.6) |
23.6 (21.7, 25.7) |
74.5 (72.3, 76.6) |
<0.001 |
0.75 |
| Non-Hispanic Black |
18.3 (17.0, 19.7) |
81.7 (80.3, 83.0) |
3.8 (2.8, 5.0) |
29.1 (26.5, 32.0) |
67.1 (64.6, 69.5) |
0.30 |
| Mexican American |
11.0 (9.2, 13.1) |
89.0 (86.9, 90.8) |
1.3 (0.7, 2.3) |
19.5 (16.6, 22.7) |
79.2 (75.6, 82.4) |
0.55 |
| Total* |
14.8 (13.8, 15.7) |
85.2 (84.3, 86.2) |
|
2.3 (1.9, 2.8) |
25.0 (23.4, 26.6) |
72.7 (71.0, 74.4) |
|
|
* Includes all U.S. race/ethnic groups.
† “other” race/ethnicity category was not included in chi-square tests.
‡ P-values from unweighted chi-square goodness-of-fit tests to test for deviations from Hardy-Weinberg (HW) proportions.
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By Age
| Variant |
Age (years) |
Allele
% (95% CI) |
Chi-square
P-value |
Genotype
% (95% CI) |
Chi-square
P-value |
| rs4986893 |
|
A |
G |
|
AA |
AG |
GG |
|
| 12-19 |
0.0 (NA) |
100.0 (NA) |
0.780 |
0.0 (NA) |
0.0 (NA) |
100.0 (NA) |
0.062 |
| 20-39 |
0.3 (0.1, 1.0) |
99.7 (99.0, 99.9) |
0.0 (NA) |
0.7 (0.2, 2.1) |
99.3 (97.9, 99.8) |
| 40-59 |
0.2 (0.1, 0.6) |
99.8 (99.4, 99.9) |
0.0 (NA) |
0.4 (0.1, 1.3) |
99.6 (98.7, 99.9) |
| >=60 |
0.2 (0.1, 0.6) |
99.8 (99.4, 99.9) |
0.1 (0.0, 0.6) |
0.3 (0.1, 1.0) |
99.6 (99.0, 99.9) |
| Total |
0.2 (0.1, 0.5) |
99.8 (99.5, 99.9) |
|
0.0 (0.0, 0.1) |
0.4 (0.2, 0.9) |
99.6 (99.1, 99.8) |
|
| rs4986894 |
|
C |
T |
|
CC |
CT |
TT |
|
| 12-19 |
14.3 (12.1, 16.9) |
85.7 (83.1, 87.9) |
0.698 |
2.0 (1.1, 3.7) |
24.6 (21.3, 28.3) |
73.4 (69.2, 77.2) |
0.097 |
| 20-39 |
15.0 (13.3, 16.7) |
85.0 (83.3, 86.7) |
2.0 (1.4, 2.6) |
26.0 (23.3, 28.9) |
72.0 (68.9, 75.0) |
| 40-59 |
14.1 (11.8, 16.9) |
85.9 (83.1, 88.2) |
2.6 (1.3, 4.8) |
23.2 (20.0, 26.6) |
74.3 (70.1, 78.0) |
| >=60 |
15.6 (13.8, 17.6) |
84.4 (82.4, 86.2) |
2.7 (1.7, 4.4) |
25.8 (22.7, 29.2) |
71.5 (68.0, 74.7) |
| Total |
14.8 (13.8, 15.7) |
85.2 (84.3, 86.2) |
|
2.3 (1.9, 2.8) |
25.0 (23.4, 26.6) |
72.7 (71.0, 74.4) |
|
* Includes all participants, regardless of race/ethnicity.
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By Sex
| Variant |
Sex |
Allele
% (95% CI) |
Chi-square
P-value |
Genotype
% (95% CI) |
Chi-square
P-value |
| rs4986893 |
|
A |
G |
|
AA |
AG |
GG |
|
| Male |
0.2 (0.1, 0.5) |
99.8 (99.5, 99.9) |
0.403 |
0.0 (0.0, 0.2) |
0.3 (0.1, 0.9) |
99.7 (99.1, 99.9) |
0.289 |
| Female |
0.3 (0.1, 0.6) |
99.7 (99.4, 99.9) |
0.0 (NA) |
0.5 (0.3, 1.1) |
99.5 (98.9, 99.7) |
| Total |
0.2 (0.1, 0.5) |
99.8 (99.5, 99.9) |
0.0 (0.0, 0.1) |
0.4 (0.2, 0.9) |
99.6 (99.1, 99.8) |
|
| rs4986894 |
|
C |
T |
|
CC |
CT |
TT |
|
| Male |
13.6 (11.9, 15.5) |
86.4 (84.5, 88.1) |
0.087 |
1.8 (1.2, 2.6) |
23.7 (20.6, 27.1) |
74.6 (71.1, 77.8) |
0.155 |
| Female |
15.9 (14.4, 17.5) |
84.1 (82.5, 85.6) |
2.8 (2.0, 3.8) |
26.2 (23.9, 28.6) |
71.0 (68.3, 73.6) |
| Total |
14.8 (13.8, 15.7) |
85.2 (84.3, 86.2) |
|
2.3 (1.9, 2.8) |
25.0 (23.4, 26.6) |
72.7 (71.0, 74.4) |
|
* Includes all participants, regardless of race/ethnicity.
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By Race/Ethnicity and Age
| Variant |
Race-ethnicity |
Age (years) |
Allele
% (95% CI) |
Genotype
% (95% CI) |
| rs4986893 |
|
|
A |
G |
AA |
AG |
GG |
| Non-Hispanic White |
12-19 |
0.0 (NA) |
100.0 (NA) |
0.0 (NA) |
0.0 (NA) |
100.0 (NA) |
| 20-39 |
0.1 (0.0, 0.3) |
99.9 (99.7, 100.0) |
0.0 (NA) |
0.1 (0.0, 0.6) |
99.9 (99.4, 100.0) |
| 40-59 |
0.2 (0.0, 0.8) |
99.8 (99.2, 100.0) |
0.0 (NA) |
0.4 (0.1, 1.7) |
99.6 (98.3, 99.9) |
| >=60 |
0.2 (0.0, 0.6) |
99.8 (99.4, 100.0) |
0.0 (NA) |
0.3 (0.1, 1.2) |
99.7 (98.8, 99.9) |
| Non-Hispanic Black |
12-19 |
0.0 (NA) |
100.0 (NA) |
0.0 (NA) |
0.0 (NA) |
100.0 (NA) |
| 20-39 |
0.2 (0.0, 0.6) |
99.8 (99.4, 100.0) |
0.0 (NA) |
0.3 (0.1, 1.2) |
99.7 (98.8, 99.9) |
| 40-59 |
0.2 (0.1, 1.1) |
99.8 (98.9, 99.9) |
0.0 (NA) |
0.5 (0.1, 2.1) |
99.5 (97.9, 99.9) |
| >=60 |
0.1 (0.0, 1.3) |
99.9 (98.7, 100.0) |
0.0 (NA) |
0.3 (0.0, 2.5) |
99.7 (97.5, 100.0) |
| Mexican American |
12-19 |
0.0 (NA) |
100.0 (NA) |
0.0 (NA) |
0.0 (NA) |
100.0 (NA) |
| 20-39 |
0.1 (0.0, 0.5) |
99.9 (99.5, 100.0) |
0.0 (NA) |
0.3 (0.1, 1.1) |
99.7 (98.9, 99.9) |
| 40-59 |
0.1 (0.0, 0.5) |
99.9 (99.5, 100.0) |
0.0 (NA) |
0.1 (0.0, 1.1) |
99.9 (98.9, 100.0) |
| >=60 |
0.2 (0.0, 1.5) |
99.8 (98.5, 100.0) |
0.0 (NA) |
0.5 (0.1, 3.1) |
99.5 (96.9, 99.9) |
| rs4986894 |
|
|
C |
T |
CC |
CT |
TT |
| Non-Hispanic White |
12-19 |
12.0 (8.8, 16.3) |
88.0 (83.7, 91.2) |
1.1 (0.3, 3.5) |
21.8 (16.5, 28.3) |
77.1 (69.8, 83.0) |
| 20-39 |
14.1 (11.9, 16.6) |
85.9 (83.4, 88.1) |
1.6 (1.0, 2.6) |
24.9 (21.5, 28.7) |
73.5 (69.2, 77.3) |
| 40-59 |
13.3 (10.9, 16.1) |
86.7 (83.9, 89.1) |
2.4 (1.1, 4.9) |
21.8 (18.9, 24.9) |
75.9 (71.8, 79.5) |
| >=60 |
14.5 (12.6, 16.7) |
85.5 (83.3, 87.4) |
2.1 (1.2, 3.4) |
24.9 (21.4, 28.7) |
73.1 (69.2, 76.6) |
| Non-Hispanic Black |
12-19 |
19.2 (16.9, 21.9) |
80.8 (78.1, 83.1) |
4.6 (2.6, 7.9) |
29.4 (24.5, 34.7) |
66.1 (61.5, 70.3) |
| 20-39 |
18.3 (16.2, 20.6) |
81.7 (79.4, 83.8) |
4.0 (2.6, 6.2) |
28.5 (25.4, 31.8) |
67.5 (63.9, 70.9) |
| 40-59 |
16.6 (13.8, 19.9) |
83.4 (80.1, 86.2) |
2.8 (1.6, 4.8) |
27.7 (23.3, 32.5) |
69.5 (64.1, 74.5) |
| >=60 |
20.5 (17.7, 23.6) |
79.5 (76.4, 82.3) |
3.7 (2.2, 6.0) |
33.6 (28.0, 39.7) |
62.7 (57.0, 68.2) |
| Mexican American |
12-19 |
9.4 (7.3, 12.0) |
90.6 (88.0, 92.7) |
0.9 (0.2, 4.2) |
17.0 (14.1, 20.3) |
82.1 (78.2, 85.5) |
| 20-39 |
11.7 (9.1, 14.8) |
88.3 (85.2, 90.9) |
1.6 (0.9, 3.0) |
20.1 (16.3, 24.7) |
78.3 (73.0, 82.7) |
| 40-59 |
10.5 (8.3, 13.2) |
89.5 (86.8, 91.7) |
1.2 (0.4, 3.6) |
18.5 (14.1, 23.9) |
80.3 (75.2, 84.5) |
| >=60 |
12.5 (10.2, 15.2) |
87.5 (84.8, 89.8) |
0.6 (0.1, 2.9) |
23.8 (20.0, 28.1) |
75.6 (70.9, 79.7) |
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By Race/Ethnicity and Sex
| Variant |
Race-ethnicity |
Sex |
Allele
% (95% CI) |
Genotype
% (95% CI) |
| rs4986893 |
|
|
A |
G |
AA |
AG |
GG |
| Non-Hispanic White |
Male |
0.1 (0.0, 0.5) |
99.9 (99.5, 100.0) |
0.0 (NA) |
0.2 (0.0, 1.0) |
99.8 (99.0, 100.0) |
| Female |
0.1 (0.1, 0.3) |
99.9 (99.7, 99.9) |
0.0 (NA) |
0.2 (0.1, 0.5) |
99.8 (99.5, 99.9) |
| Non-Hispanic Black |
Male |
0.1 (0.0, 0.5) |
99.9 (99.5, 100.0) |
0.0 (NA) |
0.2 (0.0, 1.0) |
99.8 (99.0, 100.0) |
| Female |
0.2 (0.1, 0.6) |
99.8 (99.4, 99.9) |
0.0 (NA) |
0.4 (0.1, 1.2) |
99.6 (98.8, 99.9) |
| Mexican American |
Male |
0.1 (0.0, 0.2) |
99.9 (99.8, 100.0) |
0.0 (NA) |
0.2 (0.1, 0.4) |
99.8 (99.6, 99.9) |
| Female |
0.1 (0.0, 0.6) |
99.9 (99.4, 100.0) |
0.0 (NA) |
0.2 (0.1, 1.1) |
99.8 (98.9, 99.9) |
| rs4986894 |
|
|
C |
T |
CC |
CT |
TT |
| Non-Hispanic White |
Male |
12.5 (10.6, 14.6) |
87.5 (85.4, 89.4) |
1.3 (0.6, 2.4) |
22.4 (19.0, 26.3) |
76.3 (72.3, 79.9) |
| Female |
14.8 (13.1, 16.8) |
85.2 (83.2, 86.9) |
2.5 (1.7, 3.6) |
24.8 (22.0, 27.8) |
72.8 (69.5, 75.8) |
| Non-Hispanic Black |
Male |
17.2 (15.0, 19.6) |
82.8 (80.4, 85.0) |
3.2 (2.3, 4.6) |
27.9 (23.8, 32.3) |
68.9 (64.5, 73.0) |
| Female |
19.3 (17.5, 21.3) |
80.7 (78.7, 82.5) |
4.2 (3.0, 5.9) |
30.2 (26.6, 34.1) |
65.6 (61.9, 69.0) |
| Mexican American |
Male |
10.0 (8.0, 12.5) |
90.0 (87.5, 92.0) |
1.0 (0.4, 2.4) |
18.1 (14.8, 21.8) |
81.0 (76.7, 84.6) |
| Female |
12.1 (9.9, 14.7) |
87.9 (85.3, 90.1) |
1.6 (0.9, 3.0) |
20.9 (17.0, 25.5) |
77.4 (72.7, 81.5) |
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