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U.S. Genome Variation Estimates


CYP1A2 Allele and Genotype Frequencies

Available polymorphism(s)


Common Designations

rs number

Nucleotide changeAmino acid change

Genotyping method

rs11854147

5341bp 3' of STP C>T

TaqMan

rs2069514

-3859G>A

TaqMan

rs4886406

9773bp 3' of STP T>G

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‡
rs11854147CTCCCTTT
Non-Hispanic White68.6 (66.9, 70.4)31.4 (29.6, 33.1)<0.00149.1 (46.9, 51.4)39.0 (37.2, 40.8)11.9 (10.3, 13.6)<0.001<0.01
Non-Hispanic Black27.9 (26.1, 29.7)72.1 (70.3, 73.9)8.6 (7.1, 10.4)38.6 (36.8, 40.5)52.8 (50.5, 55.1)0.11
Mexican American38.7 (35.1, 42.3)61.3 (57.7, 64.9)16.5 (13.3, 20.2)44.4 (41.0, 47.8)39.1 (34.8, 43.7)0.11
Total*59.6 (57.2, 61.9)40.4 (38.1, 42.8)39.5 (36.8, 42.2)40.1 (38.6, 41.7)20.4 (18.2, 22.7)
rs2069514AGAAAGGG
Non-Hispanic White1.6 (1.0, 2.5)98.4 (97.5, 99.0)<0.0010.1 (0.0, 0.8)2.9 (1.8, 4.7)96.9 (95.2, 98.1)<0.0010.09
Non-Hispanic Black26.3 (24.9, 27.7)73.7 (72.3, 75.1)6.3 (5.3, 7.5)39.9 (36.8, 43.1)53.8 (51.0, 56.5)0.29
Mexican American33.7 (30.2, 37.4)66.3 (62.6, 69.8)12.2 (9.3, 15.9)42.9 (39.3, 46.6)44.9 (40.3, 49.6)0.29
Total*8.4 (7.0, 10.0)91.6 (90.0, 93.0)2.2 (1.7, 2.9)12.4 (10.2, 15.0)85.4 (82.6, 87.9)
rs4886406GTGGGTTT
Non-Hispanic White27.8 (26.5, 29.2)72.2 (70.8, 73.5)<0.0018.4 (7.1, 9.8)38.9 (37.1, 40.8)52.7 (50.9, 54.6)0.0010.13
Non-Hispanic Black38.3 (36.0, 40.8)61.7 (59.2, 64.0)13.9 (12.1, 16.0)48.8 (45.9, 51.8)37.2 (33.8, 40.8)0.18
Mexican American26.5 (24.7, 28.5)73.5 (71.5, 75.3)7.2 (5.8, 9.0)38.6 (36.2, 41.1)54.1 (51.4, 56.9)0.87
Total*29.4 (28.1, 30.7)70.6 (69.3, 71.9)9.0 (7.9, 10.2)40.9 (38.9, 42.9)50.1 (48.1, 52.2)

* 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
rs11854147CTCCCTTT
12-1957.9 (51.7, 63.9)42.1 (36.1, 48.3)0.19937.8 (30.9, 45.3)40.2 (35.8, 44.7)22.0 (16.8, 28.3)0.252
20-3958.1 (54.8, 61.4)41.9 (38.6, 45.2)37.0 (33.3, 40.8)42.3 (40.2, 44.4)20.7 (17.8, 24.1)
40-5960.6 (57.4, 63.7)39.4 (36.3, 42.6)41.5 (37.5, 45.5)38.3 (35.1, 41.5)20.3 (17.5, 23.4)
>=6062.1 (59.6, 64.5)37.9 (35.5, 40.4)42.9 (39.8, 46.0)38.5 (35.5, 41.6)18.6 (16.1, 21.4)
Total59.6 (57.2, 61.9)40.4 (38.1, 42.8)39.5 (36.8, 42.2)40.1 (38.6, 41.7)20.4 (18.2, 22.7)
rs2069514AGAAAGGG
12-1910.5 (7.9, 13.9)89.5 (86.1, 92.1)0.0033.1 (2.2, 4.4)14.9 (10.8, 20.2)82.0 (76.2, 86.6)0.062
20-399.7 (7.4, 12.6)90.3 (87.4, 92.6)2.4 (1.5, 3.8)14.6 (10.7, 19.5)83.1 (77.9, 87.2)
40-597.4 (6.1, 8.9)92.6 (91.1, 93.9)2.2 (1.5, 3.2)10.4 (8.7, 12.5)87.4 (85.0, 89.4)
>=605.8 (4.5, 7.6)94.2 (92.4, 95.5)1.3 (0.6, 2.9)9.0 (7.5, 10.7)89.7 (87.2, 91.7)
Total8.4 (7.0, 10.0)91.6 (90.0, 93.0)2.2 (1.7, 2.9)12.4 (10.2, 15.0)85.4 (82.6, 87.9)
rs4886406GTGGGTTT
12-1928.7 (25.2, 32.5)71.3 (67.5, 74.8)0.8228.8 (5.4, 14.1)39.8 (34.5, 45.4)51.4 (46.6, 56.1)0.966
20-3930.0 (27.9, 32.2)70.0 (67.8, 72.1)9.1 (7.4, 11.2)41.8 (39.3, 44.4)49.1 (46.0, 52.1)
40-5929.2 (26.9, 31.7)70.8 (68.3, 73.1)9.1 (6.8, 12.1)40.2 (36.1, 44.4)50.7 (47.1, 54.2)
>=6028.9 (26.8, 31.1)71.1 (68.9, 73.2)8.5 (7.3, 9.9)40.8 (37.2, 44.5)50.7 (46.9, 54.5)
Total29.4 (28.1, 30.7)70.6 (69.3, 71.9)9.0 (7.9, 10.2)40.9 (38.9, 42.9)50.1 (48.1, 52.2)

* 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
rs11854147CTCCCTTT
Male59.5 (56.5, 62.5)40.5 (37.5, 43.5)0.97539.4 (36.1, 42.8)40.3 (37.3, 43.3)20.3 (17.2, 23.8)0.995
Female59.6 (56.9, 62.2)40.4 (37.8, 43.1)39.6 (35.8, 43.4)40.0 (37.1, 43.1)20.4 (18.5, 22.4)
Total59.6 (57.2, 61.9)40.4 (38.1, 42.8)39.5 (36.8, 42.2)40.1 (38.6, 41.7)20.4 (18.2, 22.7)
rs2069514AGAAAGGG
Male8.9 (7.0, 11.3)91.1 (88.7, 93.0)0.1662.4 (1.7, 3.5)13.0 (10.1, 16.6)84.6 (80.5, 88.0)0.391
Female7.9 (6.8, 9.1)92.1 (90.9, 93.2)2.0 (1.6, 2.6)11.8 (10.0, 14.0)86.2 (83.9, 88.1)
Total8.4 (7.0, 10.0)91.6 (90.0, 93.0)2.2 (1.7, 2.9)12.4 (10.2, 15.0)85.4 (82.6, 87.9)
rs4886406GTGGGTTT
Male29.2 (27.0, 31.6)70.8 (68.4, 73.0)0.8198.7 (7.0, 10.7)41.2 (38.1, 44.3)50.2 (46.7, 53.6)0.845
Female29.6 (28.0, 31.2)70.4 (68.8, 72.0)9.2 (8.1, 10.5)40.7 (37.0, 44.5)50.1 (46.8, 53.4)
Total29.4 (28.1, 30.7)70.6 (69.3, 71.9)9.0 (7.9, 10.2)40.9 (38.9, 42.9)50.1 (48.1, 52.2)

* 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)
rs11854147CTCCCTTT
Non-Hispanic White12-1970.6 (65.2, 75.4)29.4 (24.6, 34.8)52.2 (44.3, 59.9)36.8 (29.8, 44.4)11.0 (7.5, 15.9)
20-3968.3 (65.3, 71.2)31.7 (28.8, 34.7)48.2 (44.5, 51.9)40.3 (37.3, 43.4)11.5 (8.9, 14.7)
40-5968.5 (65.6, 71.3)31.5 (28.7, 34.4)49.2 (45.8, 52.7)38.6 (35.4, 41.9)12.2 (9.4, 15.6)
>=6068.2 (66.5, 69.9)31.8 (30.1, 33.5)49.0 (46.2, 51.8)38.5 (34.8, 42.2)12.6 (10.6, 14.9)
Non-Hispanic Black12-1924.8 (20.3, 29.9)75.2 (70.1, 79.7)6.3 (4.4, 9.0)36.9 (30.2, 44.3)56.7 (48.4, 64.6)
20-3929.5 (27.1, 32.0)70.5 (68.0, 72.9)9.9 (7.5, 13.1)39.2 (35.7, 42.7)50.9 (47.7, 54.1)
40-5925.9 (23.3, 28.7)74.1 (71.3, 76.7)7.8 (5.3, 11.4)36.3 (32.1, 40.7)55.9 (52.1, 59.7)
>=6030.6 (24.8, 37.2)69.4 (62.8, 75.2)8.8 (6.1, 12.5)43.6 (34.2, 53.5)47.5 (37.1, 58.2)
Mexican American12-1937.2 (32.9, 41.6)62.8 (58.4, 67.1)15.1 (9.9, 22.3)44.2 (37.5, 51.1)40.7 (35.9, 45.7)
20-3937.3 (34.1, 40.7)62.7 (59.3, 65.9)14.9 (12.6, 17.6)44.9 (40.8, 49.0)40.2 (35.5, 45.1)
40-5943.2 (35.9, 50.8)56.8 (49.2, 64.1)22.1 (15.3, 30.9)42.2 (36.3, 48.4)35.6 (27.7, 44.4)
>=6038.3 (34.2, 42.6)61.7 (57.4, 65.8)14.6 (11.6, 18.1)47.6 (41.6, 53.6)37.9 (31.6, 44.6)
rs2069514AGAAAGGG
Non-Hispanic White12-192.0 (0.8, 5.2)98.0 (94.8, 99.2)0.2 (0.0, 1.9)3.5 (1.2, 9.9)96.2 (90.0, 98.6)
20-391.7 (0.7, 4.1)98.3 (95.9, 99.3)0.0 (NA)3.3 (1.3, 8.2)96.7 (91.8, 98.7)
40-591.2 (0.7, 2.2)98.8 (97.8, 99.3)0.4 (0.0, 2.9)1.7 (0.9, 3.2)97.9 (96.7, 98.7)
>=601.8 (1.3, 2.4)98.2 (97.6, 98.7)0.0 (NA)3.5 (2.7, 4.7)96.5 (95.3, 97.3)
Non-Hispanic Black12-1930.5 (27.2, 34.1)69.5 (65.9, 72.8)8.8 (6.0, 12.6)43.6 (37.7, 49.7)47.7 (42.1, 53.3)
20-3924.9 (22.7, 27.3)75.1 (72.7, 77.3)5.2 (3.5, 7.7)39.4 (34.2, 44.8)55.4 (50.9, 59.9)
40-5927.2 (24.3, 30.4)72.8 (69.6, 75.7)7.5 (5.5, 10.2)39.4 (34.3, 44.8)53.1 (47.9, 58.2)
>=6023.2 (20.1, 26.7)76.8 (73.3, 79.9)4.3 (2.2, 8.2)37.9 (31.3, 44.9)57.8 (51.6, 63.8)
Mexican American12-1934.5 (27.5, 42.3)65.5 (57.7, 72.5)14.4 (9.0, 22.1)40.3 (31.9, 49.3)45.3 (35.3, 55.7)
20-3934.3 (31.9, 36.7)65.7 (63.3, 68.1)11.8 (9.4, 14.8)44.8 (41.7, 48.1)43.3 (40.4, 46.3)
40-5932.5 (27.6, 37.9)67.5 (62.1, 72.4)10.5 (6.6, 16.4)43.9 (39.2, 48.8)45.5 (39.2, 52.0)
>=6031.1 (25.6, 37.3)68.9 (62.7, 74.4)13.7 (9.6, 19.1)34.9 (28.5, 41.9)51.4 (43.2, 59.6)
rs4886406GTGGGTTT
Non-Hispanic White12-1926.6 (22.2, 31.4)73.4 (68.6, 77.8)7.9 (4.9, 12.5)37.3 (30.4, 44.7)54.8 (47.4, 62.0)
20-3928.5 (26.1, 31.1)71.5 (68.9, 73.9)8.8 (6.6, 11.6)39.4 (36.5, 42.3)51.8 (48.5, 55.1)
40-5927.9 (25.3, 30.7)72.1 (69.3, 74.7)8.4 (5.6, 12.5)39.0 (34.5, 43.7)52.6 (48.8, 56.3)
>=6027.3 (25.3, 29.3)72.7 (70.7, 74.7)7.8 (6.5, 9.4)38.9 (35.3, 42.6)53.3 (49.7, 56.8)
Non-Hispanic Black12-1934.5 (31.1, 38.1)65.5 (61.9, 68.9)9.0 (7.0, 11.3)51.1 (44.0, 58.1)40.0 (33.5, 46.9)
20-3937.2 (34.4, 40.0)62.8 (60.0, 65.6)13.6 (11.2, 16.4)47.1 (43.5, 50.8)39.3 (35.4, 43.4)
40-5941.6 (37.2, 46.1)58.4 (53.9, 62.8)17.1 (12.9, 22.3)48.9 (43.3, 54.6)34.0 (28.5, 40.0)
>=6041.4 (36.2, 46.8)58.6 (53.2, 63.8)15.8 (10.3, 23.5)51.1 (42.9, 59.3)33.1 (26.5, 40.3)
Mexican American12-1926.0 (22.9, 29.5)74.0 (70.5, 77.1)7.8 (5.7, 10.6)36.5 (30.9, 42.5)55.7 (49.9, 61.4)
20-3927.5 (24.9, 30.2)72.5 (69.8, 75.1)8.0 (5.7, 11.1)39.0 (36.3, 41.7)53.0 (49.7, 56.3)
40-5924.5 (21.2, 28.1)75.5 (71.9, 78.8)5.0 (3.3, 7.6)38.9 (32.6, 45.6)56.0 (49.6, 62.3)
>=6027.6 (24.4, 31.0)72.4 (69.0, 75.6)6.9 (4.4, 10.7)41.2 (37.0, 45.6)51.8 (47.2, 56.4)

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By Race/Ethnicity and Sex

VariantRace-ethnicitySexAllele
% (95% CI)
Genotype
% (95% CI)
rs11854147CTCCCTTT
Non-Hispanic WhiteMale68.5 (65.2, 71.6)31.5 (28.4, 34.8)48.7 (44.6, 52.9)39.6 (36.1, 43.1)11.7 (9.0, 15.1)
Female68.8 (66.9, 70.6)31.2 (29.4, 33.1)49.5 (46.4, 52.6)38.4 (35.1, 41.9)12.0 (10.4, 13.9)
Non-Hispanic BlackMale27.7 (25.2, 30.3)72.3 (69.7, 74.8)9.2 (7.6, 11.1)36.9 (33.4, 40.5)53.9 (49.8, 57.9)
Female28.1 (25.3, 31.1)71.9 (68.9, 74.7)8.0 (5.8, 11.0)40.1 (37.8, 42.4)51.9 (48.2, 55.5)
Mexican AmericanMale39.4 (35.6, 43.2)60.6 (56.8, 64.4)17.4 (14.1, 21.3)43.9 (39.4, 48.5)38.7 (33.7, 43.9)
Female37.9 (33.7, 42.4)62.1 (57.6, 66.3)15.4 (11.7, 20.1)44.9 (41.6, 48.3)39.6 (34.6, 44.9)
rs2069514AGAAAGGG
Non-Hispanic WhiteMale2.1 (1.1, 4.0)97.9 (96.0, 98.9)0.2 (0.0, 1.8)3.7 (1.9, 7.1)96.1 (92.6, 97.9)
Female1.1 (0.7, 1.9)98.9 (98.1, 99.3)0.1 (0.0, 0.4)2.2 (1.3, 3.7)97.8 (96.3, 98.7)
Non-Hispanic BlackMale26.3 (24.7, 28.0)73.7 (72.0, 75.3)6.4 (4.8, 8.4)39.8 (36.1, 43.7)53.8 (50.7, 56.8)
Female26.2 (24.3, 28.2)73.8 (71.8, 75.7)6.2 (4.9, 8.0)40.0 (35.5, 44.7)53.7 (49.8, 57.7)
Mexican AmericanMale32.7 (28.6, 37.1)67.3 (62.9, 71.4)11.5 (8.4, 15.5)42.4 (38.2, 46.6)46.1 (40.5, 51.9)
Female34.7 (31.0, 38.6)65.3 (61.4, 69.0)13.0 (9.6, 17.3)43.5 (38.5, 48.6)43.6 (38.4, 48.8)
rs4886406GTGGGTTT
Non-Hispanic WhiteMale27.5 (24.7, 30.5)72.5 (69.5, 75.3)7.7 (5.8, 10.3)39.6 (36.5, 42.8)52.7 (48.6, 56.7)
Female28.1 (26.5, 29.7)71.9 (70.3, 73.5)9.0 (7.8, 10.2)38.3 (34.4, 42.3)52.8 (49.4, 56.1)
Non-Hispanic BlackMale38.8 (35.6, 42.1)61.2 (57.9, 64.4)14.1 (12.0, 16.6)49.4 (44.5, 54.3)36.5 (31.5, 41.9)
Female38.0 (35.0, 41.0)62.0 (59.0, 65.0)13.8 (11.5, 16.4)48.4 (44.7, 52.1)37.8 (33.6, 42.3)
Mexican AmericanMale26.7 (23.5, 30.2)73.3 (69.8, 76.5)6.6 (4.8, 9.0)40.2 (36.4, 44.2)53.2 (48.0, 58.3)
Female26.4 (24.4, 28.5)73.6 (71.5, 75.6)7.9 (6.2, 10.0)37.0 (34.4, 39.6)55.1 (52.2, 58.0)


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Error processing SSI file
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