Skip directly to search Skip directly to A to Z list Skip directly to page options Skip directly to site content

U.S. Genome Variation Estimates


CYP2C19 Allele and Genotype Frequencies

Available polymorphism(s)


Common Designations

rs number

Nucleotide changeAmino acid change

Genotyping method

rs4986893Ex4-7G>ATrp212StpMGB Eclipse
rs4986894-97T>C

TaqMan

Allele and Genotype Frequencies for Subpopulations


By Race/Ethnicity

VariantRace-ethnicityAllele
% (95% CI)
Chi-square
P-value†
Genotype
% (95% CI)
Chi-square
P-value†
HW
P-value‡
rs4986893AGAAAGGG
Non-Hispanic White0.1 (0.1, 0.2)99.9 (99.8, 99.9)0.7440.0 (NA)0.2 (0.1, 0.5)99.8 (99.5, 99.9)0.8300.94
Non-Hispanic Black0.2 (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 American0.1 (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)
rs4986894CTCCCTTT
Non-Hispanic White13.7 (12.5, 14.9)86.3 (85.1, 87.5)<0.0011.9 (1.4, 2.6)23.6 (21.7, 25.7)74.5 (72.3, 76.6)<0.0010.75
Non-Hispanic Black18.3 (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 American11.0 (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.

Top of Page


By Age*

VariantAge (years)Allele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs4986893AGAAAGGG
12-190.0 (NA)100.0 (NA)0.7800.0 (NA)0.0 (NA)100.0 (NA)0.062
20-390.3 (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)
40-590.2 (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)
>=600.2 (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)
Total0.2 (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)
rs4986894CTCCCTTT
12-1914.3 (12.1, 16.9)85.7 (83.1, 87.9)0.6982.0 (1.1, 3.7)24.6 (21.3, 28.3)73.4 (69.2, 77.2)0.097
20-3915.0 (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)
40-5914.1 (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)
>=6015.6 (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)
Total14.8 (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.

Top of Page


By Sex*

VariantSexAllele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs4986893AGAAAGGG
Male0.2 (0.1, 0.5)99.8 (99.5, 99.9)0.4030.0 (0.0, 0.2)0.3 (0.1, 0.9)99.7 (99.1, 99.9)0.289
Female0.3 (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)
Total0.2 (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)
rs4986894CTCCCTTT
Male13.6 (11.9, 15.5)86.4 (84.5, 88.1)0.0871.8 (1.2, 2.6)23.7 (20.6, 27.1)74.6 (71.1, 77.8)0.155
Female15.9 (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)
Total14.8 (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.

Top of Page


By Race/Ethnicity and Age

VariantRace-ethnicityAge (years)Allele
% (95% CI)
Genotype
% (95% CI)
rs4986893AGAAAGGG
Non-Hispanic White12-190.0 (NA)100.0 (NA)0.0 (NA)0.0 (NA)100.0 (NA)
20-390.1 (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)
40-590.2 (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)
>=600.2 (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 Black12-190.0 (NA)100.0 (NA)0.0 (NA)0.0 (NA)100.0 (NA)
20-390.2 (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)
40-590.2 (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)
>=600.1 (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 American12-190.0 (NA)100.0 (NA)0.0 (NA)0.0 (NA)100.0 (NA)
20-390.1 (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)
40-590.1 (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)
>=600.2 (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)
rs4986894CTCCCTTT
Non-Hispanic White12-1912.0 (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)
20-3914.1 (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)
40-5913.3 (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)
>=6014.5 (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 Black12-1919.2 (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)
20-3918.3 (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)
40-5916.6 (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)
>=6020.5 (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 American12-199.4 (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)
20-3911.7 (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)
40-5910.5 (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)
>=6012.5 (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)

Top of Page


By Race/Ethnicity and Sex

VariantRace-ethnicitySexAllele
% (95% CI)
Genotype
% (95% CI)
rs4986893AGAAAGGG
Non-Hispanic WhiteMale0.1 (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)
Female0.1 (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 BlackMale0.1 (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)
Female0.2 (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 AmericanMale0.1 (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)
Female0.1 (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)
rs4986894CTCCCTTT
Non-Hispanic WhiteMale12.5 (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)
Female14.8 (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 BlackMale17.2 (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)
Female19.3 (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 AmericanMale10.0 (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)
Female12.1 (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)

Top of Page

Error processing SSI file
Top