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U.S. Genome Variation Estimates

CYP2C9 Allele and Genotype Frequencies

Available polymorphism(s)

Common Designations

rs number

Nucleotide changeAmino acid change

Genotyping method

rs1057910Ex7-75A>CIle359LeuTaqMan

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‡
rs1057910ACAAACCC
Non-Hispanic White93.2 (92.4, 94.0)6.8 (6.0, 7.6)<0.00187.1 (85.4, 88.5)12.3 (10.9, 14.0)0.6 (0.4, 0.9)<0.0010.28
Non-Hispanic Black98.9 (98.2, 99.4)1.1 (0.6, 1.8)97.9 (96.5, 98.7)2.0 (1.2, 3.4)0.0 (0.0, 0.3)0.08
Mexican American96.1 (95.1, 96.9)3.9 (3.1, 4.9)92.4 (90.4, 93.9)7.5 (6.0, 9.4)0.1 (0.0, 0.4)0.58
Total*94.2 (93.6, 94.8)5.8 (5.2, 6.4)89.0 (87.9, 90.1)10.4 (9.4, 11.5)0.6 (0.4, 0.9)

* 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*

VariantAge (years)Allele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs1057910ACAAACCC
12-1994.7 (92.3, 96.4)5.3 (3.6, 7.7)0.28290.1 (86.1, 93.1)9.1 (6.5, 12.7)0.7 (0.2, 3.0)0.326
20-3994.9 (93.7, 95.9)5.1 (4.1, 6.3)90.6 (88.1, 92.6)8.6 (6.4, 11.4)0.8 (0.5, 1.4)
40-5993.7 (92.0, 95.1)6.3 (4.9, 8.0)87.7 (84.3, 90.5)12.0 (9.2, 15.5)0.3 (0.1, 1.0)
>=6093.2 (92.1, 94.2)6.8 (5.8, 7.9)86.9 (85.0, 88.7)12.6 (11.0, 14.4)0.5 (0.1, 1.5)
Total94.2 (93.6, 94.8)5.8 (5.2, 6.4)89.0 (87.9, 90.1)10.4 (9.4, 11.5)0.6 (0.4, 0.9)

* Includes all participants, regardless of race/ethnicity.

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By Sex*

VariantSexAllele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs1057910ACAAACCC
Male94.5 (93.3, 95.5)5.5 (4.5, 6.7)0.39089.5 (87.3, 91.4)10.0 (8.3, 12.1)0.5 (0.2, 0.9)0.404
Female93.9 (93.1, 94.6)6.1 (5.4, 6.9)88.6 (87.0, 90.0)10.7 (9.3, 12.3)0.7 (0.4, 1.2)
Total94.2 (93.6, 94.8)5.8 (5.2, 6.4)89.0 (87.9, 90.1)10.4 (9.4, 11.5)0.6 (0.4, 0.9)

* Includes all participants, regardless of race/ethnicity.

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By Race/Ethnicity and Age

VariantRace-ethnicityAge (years)Allele
% (95% CI)
Genotype
% (95% CI)
rs1057910ACAAACCC
Non-Hispanic White12-1993.6 (90.7, 95.7)6.4 (4.3, 9.3)87.7 (81.9, 91.7)12.0 (7.9, 17.7)0.4 (0.1, 1.6)
20-3993.8 (92.0, 95.2)6.2 (4.8, 8.0)88.5 (84.8, 91.5)10.5 (7.6, 14.5)0.9 (0.6, 1.3)
40-5992.8 (90.5, 94.6)7.2 (5.4, 9.5)86.0 (81.5, 89.6)13.6 (10.0, 18.2)0.4 (0.1, 1.3)
>=6092.6 (91.2, 93.7)7.4 (6.3, 8.8)85.6 (83.4, 87.6)13.9 (12.1, 15.8)0.5 (0.1, 1.9)
Non-Hispanic Black12-1998.6 (97.1, 99.4)1.4 (0.6, 2.9)97.2 (94.2, 98.7)2.8 (1.3, 5.8)0.0 (NA)
20-3998.8 (97.7, 99.4)1.2 (0.6, 2.3)97.6 (95.4, 98.8)2.4 (1.2, 4.6)0.0 (NA)
40-5999.1 (97.8, 99.7)0.9 (0.3, 2.2)98.5 (95.9, 99.4)1.4 (0.5, 4.1)0.2 (0.0, 1.2)
>=6099.3 (98.0, 99.8)0.7 (0.2, 2.0)98.6 (96.0, 99.5)1.4 (0.5, 4.0)0.0 (NA)
Mexican American12-1996.4 (93.8, 98.0)3.6 (2.0, 6.2)93.3 (88.4, 96.2)6.2 (3.3, 11.3)0.5 (0.1, 3.7)
20-3996.1 (94.9, 97.1)3.9 (2.9, 5.1)92.2 (89.8, 94.2)7.8 (5.8, 10.2)0.0 (NA)
40-5995.4 (93.4, 96.8)4.6 (3.2, 6.6)90.9 (86.8, 93.8)9.0 (6.0, 13.3)0.1 (0.0, 0.9)
>=6097.2 (95.1, 98.4)2.8 (1.6, 4.9)94.4 (90.3, 96.9)5.6 (3.1, 9.7)0.0 (NA)

By Race/Ethnicity and Sex

VariantRace-ethnicitySexAllele
% (95% CI)
Genotype
% (95% CI)
rs1057910ACAAACCC
Non-Hispanic WhiteMale93.8 (92.2, 95.0)6.2 (5.0, 7.8)88.0 (85.2, 90.3)11.6 (9.4, 14.2)0.4 (0.2, 1.1)
Female92.7 (91.8, 93.5)7.3 (6.5, 8.2)86.2 (84.3, 87.8)13.0 (11.2, 15.1)0.8 (0.5, 1.2)
Non-Hispanic BlackMale98.7 (97.7, 99.2)1.3 (0.8, 2.3)97.3 (95.4, 98.5)2.7 (1.5, 4.6)0.0 (NA)
Female99.2 (98.6, 99.5)0.8 (0.5, 1.4)98.4 (97.3, 99.1)1.5 (0.9, 2.6)0.1 (0.0, 0.6)
Mexican AmericanMale95.7 (94.1, 96.9)4.3 (3.1, 5.9)91.7 (88.8, 93.9)8.1 (6.1, 10.8)0.2 (0.1, 0.7)
Female96.5 (95.4, 97.4)3.5 (2.6, 4.6)93.1 (90.8, 94.8)6.9 (5.2, 9.2)0.0 (NA)

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