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U.S. Genome Variation Estimates


CYP1B1 Allele and Genotype Frequencies

Available polymorphism(s)


Common Designations

rs number

Nucleotide changeAmino acid change

Genotyping method

rs1056836Ex3+251G>CVal432LeuTaqMan
rs1056837Ex3+304T>CAsp449AspTaqMan
rs162557-2919C>T

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‡
rs1056836CGCCCGGG
Non-Hispanic White54.8 (53.2, 56.4)45.2 (43.6, 46.8)<0.00130.7 (29.1, 32.4)48.2 (45.2, 51.1)21.1 (18.7, 23.8)<0.0010.42
Non-Hispanic Black25.0 (23.5, 26.5)75.0 (73.5, 76.5)5.9 (4.8, 7.3)38.2 (35.8, 40.7)55.9 (53.5, 58.3)0.14
Mexican American73.5 (71.1, 75.7)26.5 (24.3, 28.9)55.3 (52.0, 58.4)36.4 (34.2, 38.7)8.3 (6.9, 10.1)0.02
Total*54.0 (52.2, 55.9)46.0 (44.1, 47.8)31.3 (29.6, 33.0)45.5 (43.1, 47.9)23.2 (20.7, 26.0)
rs1056837CTCCCTTT
Non-Hispanic White55.0 (53.3, 56.7)45.0 (43.3, 46.7)<0.00131.0 (29.2, 32.9)47.9 (44.9, 50.9)21.0 (18.5, 23.7)<0.0010.21
Non-Hispanic Black27.3 (25.7, 29.0)72.7 (71.0, 74.3)7.2 (6.0, 8.8)40.1 (37.1, 43.1)52.6 (49.8, 55.5)0.52
Mexican American73.7 (71.2, 76.0)26.3 (24.0, 28.8)55.9 (52.8, 59.0)35.5 (33.7, 37.4)8.6 (6.7, 10.8)0.01
Total*54.5 (52.7, 56.3)45.5 (43.7, 47.3)31.7 (30.0, 33.5)45.5 (43.1, 48.0)22.7 (20.3, 25.4)
rs162557CTCCCTTT
Non-Hispanic White76.8 (74.8, 78.7)23.2 (21.3, 25.2)<0.00159.2 (56.5, 61.7)35.2 (33.4, 37.0)5.6 (4.2, 7.4)<0.0010.81
Non-Hispanic Black78.4 (76.6, 80.0)21.6 (20.0, 23.4)61.2 (58.1, 64.2)34.2 (31.2, 37.5)4.5 (3.5, 5.9)0.64
Mexican American86.9 (85.3, 88.4)13.1 (11.6, 14.7)75.6 (72.6, 78.4)22.6 (20.0, 25.5)1.7 (1.2, 2.5)0.99
Total*78.6 (76.9, 80.2)21.4 (19.8, 23.1)62.1 (59.7, 64.4)33.1 (31.3, 34.9)4.8 (3.7, 6.3)

* 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
rs1056836CGCCCGGG
12-1950.6 (45.6, 55.6)49.4 (44.4, 54.4)0.22426.9 (22.4, 32.1)47.3 (41.8, 52.8)25.8 (19.9, 32.7)0.312
20-3954.9 (52.3, 57.5)45.1 (42.5, 47.7)32.6 (29.5, 35.8)44.7 (41.4, 48.1)22.7 (19.9, 25.8)
40-5953.1 (49.3, 56.8)46.9 (43.2, 50.7)30.2 (26.3, 34.3)45.8 (42.6, 48.9)24.1 (20.1, 28.5)
>=6056.1 (52.7, 59.3)43.9 (40.7, 47.3)33.3 (29.5, 37.3)45.5 (41.8, 49.2)21.2 (17.8, 25.1)
Total54.0 (52.2, 55.9)46.0 (44.1, 47.8)31.3 (29.6, 33.0)45.5 (43.1, 47.9)23.2 (20.7, 26.0)
rs1056837CTCCCTTT
12-1950.9 (46.1, 55.7)49.1 (44.3, 53.9)0.13327.2 (22.7, 32.3)47.3 (42.0, 52.7)25.5 (19.8, 32.1)0.245
20-3955.2 (52.8, 57.6)44.8 (42.4, 47.2)32.8 (29.8, 36.0)44.8 (41.3, 48.3)22.4 (19.7, 25.4)
40-5953.4 (49.6, 57.2)46.6 (42.8, 50.4)30.4 (26.6, 34.5)46.0 (43.0, 49.0)23.6 (19.7, 28.1)
>=6057.3 (54.1, 60.4)42.7 (39.6, 45.9)34.7 (30.9, 38.7)45.1 (41.0, 49.4)20.2 (16.8, 24.1)
Total54.5 (52.7, 56.3)45.5 (43.7, 47.3)31.7 (30.0, 33.5)45.5 (43.1, 48.0)22.7 (20.3, 25.4)
rs162557CTCCCTTT
12-1980.7 (78.2, 83.0)19.3 (17.0, 21.8)0.09664.3 (59.7, 68.6)32.8 (28.2, 37.7)2.9 (1.6, 5.3)0.023
20-3979.4 (77.8, 80.9)20.6 (19.1, 22.2)63.8 (61.0, 66.5)31.2 (27.7, 34.9)5.0 (3.3, 7.5)
40-5977.4 (73.7, 80.8)22.6 (19.2, 26.3)60.3 (54.5, 65.8)34.3 (29.7, 39.2)5.4 (3.7, 7.9)
>=6077.3 (75.4, 79.1)22.7 (20.9, 24.6)59.6 (56.5, 62.6)35.4 (32.4, 38.5)5.0 (3.7, 6.7)
Total78.6 (76.9, 80.2)21.4 (19.8, 23.1)62.1 (59.7, 64.4)33.1 (31.3, 34.9)4.8 (3.7, 6.3)

* 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
rs1056836CGCCCGGG
Male54.8 (51.4, 58.1)45.2 (41.9, 48.6)0.39832.4 (29.1, 35.8)44.9 (42.0, 47.9)22.7 (19.0, 26.9)0.660
Female53.3 (51.6, 55.0)46.7 (45.0, 48.4)30.3 (28.1, 32.6)46.0 (42.9, 49.2)23.7 (21.4, 26.1)
Total54.0 (52.2, 55.9)46.0 (44.1, 47.8)31.3 (29.6, 33.0)45.5 (43.1, 47.9)23.2 (20.7, 26.0)
rs1056837CTCCCTTT
Male55.2 (52.2, 58.2)44.8 (41.8, 47.8)0.35832.4 (29.5, 35.4)45.7 (42.7, 48.8)21.9 (18.4, 25.8)0.615
Female53.8 (52.0, 55.6)46.2 (44.4, 48.0)31.1 (28.8, 33.5)45.4 (42.4, 48.4)23.5 (21.3, 25.9)
Total54.5 (52.7, 56.3)45.5 (43.7, 47.3)31.7 (30.0, 33.5)45.5 (43.1, 48.0)22.7 (20.3, 25.4)
rs162557CTCCCTTT
Male79.3 (77.1, 81.3)20.7 (18.7, 22.9)0.26163.5 (60.3, 66.6)31.7 (29.0, 34.5)4.8 (3.4, 6.8)0.384
Female78.0 (75.8, 80.0)22.0 (20.0, 24.2)60.8 (57.7, 63.8)34.4 (31.7, 37.2)4.8 (3.3, 7.0)
Total78.6 (76.9, 80.2)21.4 (19.8, 23.1)62.1 (59.7, 64.4)33.1 (31.3, 34.9)4.8 (3.7, 6.3)

* 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)
rs1056836CGCCCGGG
Non-Hispanic White12-1951.4 (45.0, 57.8)48.6 (42.2, 55.0)27.1 (21.5, 33.6)48.6 (41.9, 55.3)24.3 (17.0, 33.4)
20-3955.5 (52.1, 58.9)44.5 (41.1, 47.9)31.4 (27.4, 35.7)48.2 (44.1, 52.3)20.4 (16.9, 24.3)
40-5953.2 (49.1, 57.3)46.8 (42.7, 50.9)29.1 (24.7, 33.8)48.3 (44.3, 52.4)22.6 (18.3, 27.5)
>=6057.5 (54.4, 60.7)42.5 (39.3, 45.6)33.7 (29.7, 38.0)47.6 (42.8, 52.5)18.6 (15.1, 22.7)
Non-Hispanic Black12-1926.3 (23.0, 29.8)73.7 (70.2, 77.0)6.2 (3.7, 10.1)40.2 (34.6, 46.1)53.6 (48.1, 59.1)
20-3925.1 (22.7, 27.7)74.9 (72.3, 77.3)6.6 (4.8, 9.1)37.1 (32.5, 41.8)56.4 (51.9, 60.7)
40-5924.0 (21.3, 26.9)76.0 (73.1, 78.7)5.2 (3.4, 7.9)37.5 (33.9, 41.1)57.3 (53.0, 61.4)
>=6024.8 (20.7, 29.5)75.2 (70.5, 79.3)4.7 (2.4, 9.2)40.2 (34.8, 46.0)55.0 (48.3, 61.6)
Mexican American12-1973.1 (69.9, 76.1)26.9 (23.9, 30.1)56.2 (51.4, 60.9)33.9 (29.1, 39.0)9.9 (7.3, 13.3)
20-3972.8 (69.8, 75.6)27.2 (24.4, 30.2)54.4 (50.5, 58.3)36.9 (34.2, 39.6)8.7 (6.7, 11.4)
40-5974.1 (70.7, 77.2)25.9 (22.8, 29.3)55.2 (49.6, 60.6)37.9 (32.4, 43.6)7.0 (4.8, 10.0)
>=6076.4 (72.3, 80.1)23.6 (19.9, 27.7)58.4 (53.0, 63.6)36.0 (30.7, 41.8)5.6 (2.6, 11.6)
rs1056837CTCCCTTT
Non-Hispanic White12-1951.0 (44.6, 57.4)49.0 (42.6, 55.4)27.0 (21.2, 33.7)48.0 (41.9, 54.2)25.0 (18.0, 33.7)
20-3955.6 (52.5, 58.7)44.4 (41.3, 47.5)31.5 (27.7, 35.6)48.2 (44.0, 52.3)20.3 (17.1, 24.0)
40-5953.3 (49.2, 57.2)46.7 (42.8, 50.8)29.1 (24.9, 33.6)48.3 (44.5, 52.2)22.6 (18.3, 27.4)
>=6058.6 (55.4, 61.6)41.4 (38.4, 44.6)35.1 (30.9, 39.5)47.0 (42.0, 52.1)17.9 (14.5, 21.9)
Non-Hispanic Black12-1929.5 (26.5, 32.7)70.5 (67.3, 73.5)7.8 (5.2, 11.4)43.5 (39.3, 47.8)48.7 (44.3, 53.2)
20-3926.6 (23.9, 29.6)73.4 (70.4, 76.1)7.6 (5.5, 10.4)38.1 (32.7, 43.8)54.3 (49.2, 59.3)
40-5926.9 (23.5, 30.5)73.1 (69.5, 76.5)6.9 (4.8, 10.0)39.8 (35.1, 44.8)53.2 (47.8, 58.6)
>=6027.2 (23.1, 31.7)72.8 (68.3, 76.9)6.0 (3.4, 10.4)42.3 (38.1, 46.6)51.6 (45.7, 57.5)
Mexican American12-1973.5 (70.5, 76.4)26.5 (23.6, 29.5)57.5 (53.2, 61.8)32.0 (27.4, 37.1)10.4 (7.6, 14.2)
20-3973.1 (69.7, 76.3)26.9 (23.7, 30.3)54.8 (50.6, 58.8)36.7 (34.2, 39.2)8.6 (6.1, 11.9)
40-5974.0 (70.6, 77.1)26.0 (22.9, 29.4)56.0 (50.5, 61.3)36.0 (30.7, 41.6)8.1 (5.8, 11.1)
>=6076.8 (73.0, 80.2)23.2 (19.8, 27.0)58.9 (53.5, 64.1)35.8 (30.2, 41.7)5.3 (2.6, 10.6)
rs162557CTCCCTTT
Non-Hispanic White12-1979.3 (76.0, 82.2)20.7 (17.8, 24.0)61.6 (55.8, 67.2)35.3 (29.4, 41.7)3.1 (1.4, 6.4)
20-3977.3 (75.2, 79.2)22.7 (20.8, 24.8)60.6 (56.9, 64.1)33.4 (28.7, 38.4)6.0 (3.9, 9.1)
40-5975.3 (70.8, 79.3)24.7 (20.7, 29.2)57.0 (50.3, 63.5)36.6 (31.2, 42.3)6.4 (4.2, 9.7)
>=6076.5 (74.4, 78.5)23.5 (21.5, 25.6)58.3 (54.9, 61.6)36.5 (33.2, 40.0)5.2 (3.7, 7.3)
Non-Hispanic Black12-1979.7 (76.0, 83.0)20.3 (17.0, 24.0)63.8 (57.7, 69.5)31.8 (26.1, 38.1)4.3 (2.3, 7.9)
20-3977.7 (74.8, 80.4)22.3 (19.6, 25.2)61.0 (56.2, 65.7)33.3 (28.6, 38.4)5.6 (3.8, 8.3)
40-5978.9 (76.6, 81.0)21.1 (19.0, 23.4)61.5 (57.3, 65.6)34.8 (30.4, 39.5)3.7 (2.3, 5.8)
>=6077.5 (74.5, 80.3)22.5 (19.7, 25.5)57.9 (52.8, 62.9)39.2 (34.4, 44.3)2.9 (1.5, 5.3)
Mexican American12-1984.3 (81.2, 87.1)15.7 (12.9, 18.8)71.4 (66.2, 76.1)25.9 (21.5, 30.9)2.7 (1.3, 5.5)
20-3987.7 (85.9, 89.4)12.3 (10.6, 14.1)76.8 (73.0, 80.2)21.8 (18.2, 26.0)1.3 (0.8, 2.2)
40-5986.3 (83.4, 88.9)13.7 (11.1, 16.6)74.8 (69.9, 79.2)23.1 (19.0, 27.7)2.1 (1.0, 4.5)
>=6090.0 (87.6, 92.0)10.0 (8.0, 12.4)80.8 (75.7, 85.1)18.4 (13.7, 24.1)0.8 (0.2, 2.9)

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By Race/Ethnicity and Sex

VariantRace-ethnicitySexAllele
% (95% CI)
Genotype
% (95% CI)
rs1056836CGCCCGGG
Non-Hispanic WhiteMale55.3 (51.5, 59.0)44.7 (41.0, 48.5)31.6 (27.6, 35.8)47.3 (43.8, 50.9)21.1 (17.2, 25.6)
Female54.4 (51.9, 56.8)45.6 (43.2, 48.1)29.9 (26.9, 33.1)48.9 (45.2, 52.7)21.2 (18.2, 24.4)
Non-Hispanic BlackMale24.8 (22.3, 27.4)75.2 (72.6, 77.7)5.2 (3.8, 7.2)39.1 (35.5, 42.8)55.7 (51.6, 59.7)
Female25.2 (22.9, 27.7)74.8 (72.3, 77.1)6.5 (4.6, 9.1)37.4 (34.3, 40.7)56.1 (52.6, 59.5)
Mexican AmericanMale73.9 (70.9, 76.7)26.1 (23.3, 29.1)55.9 (51.5, 60.2)36.0 (32.0, 40.2)8.1 (6.0, 10.9)
Female73.0 (69.9, 75.9)27.0 (24.1, 30.1)54.6 (49.5, 59.5)36.9 (32.5, 41.5)8.6 (6.9, 10.6)
rs1056837CTCCCTTT
Non-Hispanic WhiteMale55.4 (52.2, 58.6)44.6 (41.4, 47.8)31.5 (28.1, 35.1)47.9 (44.3, 51.5)20.6 (17.1, 24.7)
Female54.6 (52.0, 57.3)45.4 (42.7, 48.0)30.6 (27.5, 33.9)48.0 (44.5, 51.5)21.4 (18.4, 24.7)
Non-Hispanic BlackMale27.2 (24.5, 30.0)72.8 (70.0, 75.5)5.9 (4.2, 8.1)42.6 (38.7, 46.5)51.6 (47.2, 55.9)
Female27.4 (25.1, 29.8)72.6 (70.2, 74.9)8.4 (6.4, 10.9)38.1 (35.0, 41.2)53.6 (50.2, 56.8)
Mexican AmericanMale74.1 (70.9, 77.1)25.9 (22.9, 29.1)56.1 (51.6, 60.5)36.0 (32.2, 40.0)7.9 (5.7, 10.9)
Female73.3 (70.0, 76.2)26.7 (23.8, 30.0)55.8 (51.1, 60.4)34.9 (30.5, 39.6)9.3 (6.9, 12.4)
rs162557CTCCCTTT
Non-Hispanic WhiteMale77.8 (74.9, 80.4)22.2 (19.6, 25.1)61.2 (57.2, 65.1)33.1 (29.9, 36.4)5.7 (3.8, 8.4)
Female75.8 (73.4, 78.1)24.2 (21.9, 26.6)57.2 (54.0, 60.4)37.2 (34.3, 40.3)5.5 (3.6, 8.3)
Non-Hispanic BlackMale78.7 (76.4, 80.9)21.3 (19.1, 23.6)61.1 (57.5, 64.6)35.2 (32.1, 38.4)3.7 (2.4, 5.5)
Female78.1 (75.3, 80.6)21.9 (19.4, 24.7)61.3 (56.8, 65.6)33.4 (29.5, 37.7)5.2 (3.8, 7.2)
Mexican AmericanMale87.5 (85.2, 89.4)12.5 (10.6, 14.8)76.6 (72.4, 80.4)21.7 (18.0, 25.8)1.7 (1.0, 2.8)
Female86.4 (83.7, 88.7)13.6 (11.3, 16.3)74.6 (70.2, 78.5)23.7 (20.4, 27.3)1.8 (1.0, 3.0)

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Error processing SSI file
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