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U.S. Genome Variation Estimates

ADH1B Allele and Genotype Frequencies

Available polymorphism(s)

Common Designations

rs number

Nucleotide changeAmino acid change

Genotyping method

rs1229984

Ex3+23G>AArg48HisTaqMan
rs17033Ex9+77A>GTaqMan
rs2066702Ex9+5C>TArg370CysTaqMan

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‡
rs1229984AGAAAGGG
Non-Hispanic White4.7 (3.9, 5.6)95.3 (94.4, 96.1)<0.0010.2 (0.1, 0.5)9.0 (7.6, 10.7)90.8 (89.0, 92.3)<0.0010.89
Non-Hispanic Black1.4 (0.8, 2.3)98.6 (97.7, 99.2)0.0 (NA)2.7 (1.6, 4.6)97.3 (95.4, 98.4)0.59
Mexican American5.5 (4.8, 6.2)94.5 (93.8, 95.2)0.1 (0.0, 0.3)10.8 (9.4, 12.3)89.2 (87.7, 90.5)0.14
Total*6.4 (5.5, 7.5)93.6 (92.5, 94.5)1.6 (1.1, 2.3)9.7 (8.4, 11.1)88.8 (87.0, 90.3)
rs17033AGAAAGGG
Non-Hispanic White91.5 (90.8, 92.2)8.5 (7.8, 9.2)<0.00183.8 (82.5, 85.1)15.4 (14.0, 16.9)0.8 (0.4, 1.4)<0.0010.82
Non-Hispanic Black93.1 (91.9, 94.1)6.9 (5.9, 8.1)86.9 (84.8, 88.7)12.5 (10.8, 14.4)0.6 (0.3, 1.4)0.02
Mexican American70.0 (67.9, 72.0)30.0 (28.0, 32.1)49.3 (46.1, 52.5)41.3 (38.3, 44.5)9.4 (7.8, 11.2)0.10
Total*90.0 (89.1, 90.8)10.0 (9.2, 10.9)81.4 (79.7, 82.9)17.2 (15.7, 18.8)1.4 (1.0, 1.9)
rs2066702CTCCCTTT
Non-Hispanic White99.6 (99.3, 99.8)0.4 (0.2, 0.7)<0.00199.2 (98.7, 99.6)0.8 (0.4, 1.3)0.0 (NA)<0.0010.86
Non-Hispanic Black80.0 (78.5, 81.5)20.0 (18.5, 21.5)64.0 (61.5, 66.4)32.1 (29.8, 34.5)3.9 (3.0, 5.1)0.52
Mexican American99.1 (98.6, 99.5)0.9 (0.5, 1.4)98.3 (97.3, 98.9)1.7 (1.1, 2.7)0.0 (NA)0.67
Total*97.1 (96.4, 97.7)2.9 (2.3, 3.6)94.7 (93.4, 95.8)4.8 (3.8, 6.0)0.5 (0.3, 0.6)

* 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
rs1229984AGAAAGGG
12-198.1 (5.2, 12.6)91.9 (87.4, 94.8)0.4122.6 (1.1, 6.0)11.1 (7.6, 15.9)86.3 (79.9, 90.9)0.269
20-395.9 (4.5, 7.7)94.1 (92.3, 95.5)1.3 (0.6, 2.6)9.3 (7.5, 11.5)89.4 (86.7, 91.6)
40-596.4 (5.0, 8.1)93.6 (91.9, 95.0)1.9 (1.3, 2.7)8.9 (6.7, 11.9)89.2 (86.1, 91.6)
>=606.3 (5.3, 7.4)93.7 (92.6, 94.7)1.1 (0.5, 2.3)10.4 (8.3, 12.9)88.5 (86.3, 90.4)
Total6.4 (5.5, 7.5)93.6 (92.5, 94.5)1.6 (1.1, 2.3)9.7 (8.4, 11.1)88.8 (87.0, 90.3)
rs17033AGAAAGGG
12-1991.3 (88.9, 93.2)8.7 (6.8, 11.1)0.15384.2 (80.1, 87.5)14.2 (11.2, 17.9)1.6 (0.9, 3.0)0.058
20-3989.4 (88.1, 90.6)10.6 (9.4, 11.9)80.4 (77.9, 82.6)18.1 (15.7, 20.7)1.6 (0.9, 2.5)
40-5989.3 (87.7, 90.8)10.7 (9.2, 12.3)80.1 (77.2, 82.7)18.6 (16.1, 21.4)1.4 (0.8, 2.4)
>=6091.1 (89.4, 92.6)8.9 (7.4, 10.6)83.3 (80.2, 86.0)15.6 (13.2, 18.5)1.1 (0.6, 1.9)
Total90.0 (89.1, 90.8)10.0 (9.2, 10.9)81.4 (79.7, 82.9)17.2 (15.7, 18.8)1.4 (1.0, 1.9)
rs2066702CTCCCTTT
12-1996.4 (95.2, 97.3)3.6 (2.7, 4.8)0.02193.4 (91.4, 94.9)6.1 (4.8, 7.7)0.6 (0.2, 1.3)0.002
20-3996.8 (95.8, 97.6)3.2 (2.4, 4.2)94.1 (92.2, 95.5)5.4 (4.1, 7.2)0.5 (0.3, 0.7)
40-5997.4 (96.4, 98.1)2.6 (1.9, 3.6)95.3 (93.4, 96.6)4.3 (2.9, 6.2)0.5 (0.3, 0.8)
>=6097.9 (97.1, 98.5)2.1 (1.5, 2.9)96.2 (94.7, 97.3)3.4 (2.4, 4.8)0.4 (0.2, 0.8)
Total97.1 (96.4, 97.7)2.9 (2.3, 3.6)94.7 (93.4, 95.8)4.8 (3.8, 6.0)0.5 (0.3, 0.6)

* 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
rs1229984AGAAAGGG
Male6.9 (5.6, 8.5)93.1 (91.5, 94.4)0.2161.7 (0.8, 3.3)10.4 (8.9, 12.2)87.9 (85.6, 89.9)0.462
Female6.0 (4.9, 7.2)94.0 (92.8, 95.1)1.5 (1.1, 1.9)9.0 (7.1, 11.3)89.5 (87.2, 91.5)
Total6.4 (5.5, 7.5)93.6 (92.5, 94.5)1.6 (1.1, 2.3)9.7 (8.4, 11.1)88.8 (87.0, 90.3)
rs17033AGAAAGGG
Male89.9 (88.7, 91.0)10.1 (9.0, 11.3)0.85980.8 (78.5, 82.9)18.2 (16.3, 20.3)1.0 (0.6, 1.6)0.083
Female90.0 (88.8, 91.2)10.0 (8.8, 11.2)81.9 (79.7, 83.9)16.3 (14.4, 18.4)1.8 (1.2, 2.7)
Total90.0 (89.1, 90.8)10.0 (9.2, 10.9)81.4 (79.7, 82.9)17.2 (15.7, 18.8)1.4 (1.0, 1.9)
rs2066702CTCCCTTT
Male97.0 (96.0, 97.8)3.0 (2.2, 4.0)0.43594.5 (92.7, 95.9)5.0 (3.8, 6.6)0.5 (0.3, 0.8)0.750
Female97.2 (96.6, 97.8)2.8 (2.2, 3.4)94.9 (93.8, 95.9)4.7 (3.8, 5.8)0.4 (0.3, 0.6)
Total97.1 (96.4, 97.7)2.9 (2.3, 3.6)94.7 (93.4, 95.8)4.8 (3.8, 6.0)0.5 (0.3, 0.6)

* 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)
rs4646994AGAAAGGG
Non-Hispanic White12-196.1 (4.0, 9.3)93.9 (90.7, 96.0)0.4 (0.1, 3.1)11.4 (7.9, 16.2)88.2 (82.8, 92.1)
20-394.3 (3.3, 5.5)95.7 (94.5, 96.7)0.2 (0.0, 1.5)8.2 (6.3, 10.5)91.7 (89.3, 93.5)
40-594.3 (2.9, 6.1)95.7 (93.9, 97.1)0.0 (NA)8.5 (5.8, 12.2)91.5 (87.8, 94.2)
>=605.1 (4.1, 6.3)94.9 (93.7, 95.9)0.2 (0.1, 0.7)9.8 (7.7, 12.4)90.0 (87.5, 92.0)
Non-Hispanic Black12-191.2 (0.7, 2.1)98.8 (97.9, 99.3)0.0 (NA)2.4 (1.4, 4.2)97.6 (95.8, 98.6)
20-391.4 (0.7, 3.1)98.6 (96.9, 99.3)0.0 (NA)2.9 (1.3, 6.1)97.1 (93.9, 98.7)
40-591.8 (0.8, 3.9)98.2 (96.1, 99.2)0.0 (NA)3.5 (1.6, 7.8)96.5 (92.2, 98.4)
>=600.6 (0.2, 2.0)99.4 (98.0, 99.8)0.0 (NA)1.1 (0.3, 4.0)98.9 (96.0, 99.7)
Mexican American12-196.0 (4.7, 7.7)94.0 (92.3, 95.3)0.1 (0.0, 0.7)11.9 (9.2, 15.2)88.0 (84.7, 90.7)
20-395.1 (4.1, 6.4)94.9 (93.6, 95.9)0.1 (0.0, 0.7)10.1 (7.9, 12.9)89.8 (87.1, 91.9)
40-595.3 (3.9, 7.3)94.7 (92.7, 96.1)0.0 (NA)10.7 (7.8, 14.5)89.3 (85.5, 92.2)
>=606.2 (4.2, 9.1)93.8 (90.9, 95.8)0.2 (0.0, 1.4)12.0 (7.9, 17.9)87.8 (82.0, 91.9)
rs17033AGAAAGGG
Non-Hispanic White12-1993.3 (90.4, 95.4)6.7 (4.6, 9.6)86.9 (81.6, 90.8)12.9 (9.1, 17.8)0.2 (0.0, 1.9)
20-3991.5 (90.1, 92.7)8.5 (7.3, 9.9)83.7 (80.8, 86.2)15.7 (12.9, 18.9)0.7 (0.2, 2.5)
40-5990.3 (88.4, 91.8)9.7 (8.2, 11.6)81.6 (78.4, 84.4)17.3 (14.6, 20.4)1.1 (0.5, 2.5)
>=6092.3 (90.4, 93.9)7.7 (6.1, 9.6)85.4 (82.0, 88.2)13.9 (11.4, 16.9)0.7 (0.3, 1.8)
Non-Hispanic Black12-1994.2 (91.9, 95.9)5.8 (4.1, 8.1)89.6 (86.2, 92.3)9.1 (6.9, 12.0)1.2 (0.4, 3.7)
20-3992.6 (90.7, 94.2)7.4 (5.8, 9.3)85.7 (82.0, 88.7)13.9 (10.9, 17.5)0.4 (0.2, 1.3)
40-5993.7 (91.4, 95.4)6.3 (4.6, 8.6)87.4 (82.9, 90.8)12.6 (9.2, 17.1)0.0 (NA)
>=6092.2 (88.1, 95.0)7.8 (5.0, 11.9)86.0 (79.5, 90.6)12.5 (8.2, 18.6)1.5 (0.4, 6.4)
Mexican American12-1969.8 (66.2, 73.1)30.2 (26.9, 33.8)50.7 (44.8, 56.7)38.1 (31.5, 45.2)11.1 (8.1, 15.1)
20-3970.9 (68.0, 73.7)29.1 (26.3, 32.0)50.1 (45.6, 54.5)41.6 (37.1, 46.3)8.3 (6.0, 11.2)
40-5968.1 (65.7, 70.5)31.9 (29.5, 34.3)46.2 (43.2, 49.2)43.9 (40.1, 47.7)9.9 (7.2, 13.6)
>=6069.4 (63.8, 74.5)30.6 (25.5, 36.2)48.9 (41.7, 56.1)41.0 (35.7, 46.5)10.1 (6.5, 15.4)
rs2066702CTCCCTTT
Non-Hispanic White12-19100.0 (NA)0.0 (NA)100.0 (NA)0.0 (NA)0.0 (NA)
20-3999.5 (98.5, 99.8)0.5 (0.2, 1.5)98.9 (97.1, 99.6)1.1 (0.4, 2.9)0.0 (NA)
40-5999.7 (99.0, 99.9)0.3 (0.1, 1.0)99.3 (98.0, 99.8)0.7 (0.2, 2.0)0.0 (NA)
>=6099.6 (99.2, 99.8)0.4 (0.2, 0.8)99.2 (98.4, 99.6)0.8 (0.4, 1.6)0.0 (NA)
Non-Hispanic Black12-1979.3 (76.5, 81.9)20.7 (18.1, 23.5)62.0 (58.0, 65.8)34.7 (31.0, 38.6)3.4 (1.6, 7.1)
20-3979.6 (77.3, 81.8)20.4 (18.2, 22.7)63.0 (59.2, 66.5)33.3 (30.0, 36.8)3.7 (2.4, 5.7)
40-5981.1 (79.2, 82.9)18.9 (17.1, 20.8)66.7 (62.8, 70.4)28.8 (24.1, 34.0)4.5 (2.7, 7.2)
>=6080.2 (74.7, 84.8)19.8 (15.2, 25.3)64.8 (55.8, 72.9)30.8 (23.1, 39.7)4.4 (2.0, 9.2)
Mexican American12-1998.8 (96.5, 99.6)1.2 (0.4, 3.5)97.6 (93.1, 99.2)2.4 (0.8, 6.9)0.0 (NA)
20-3999.3 (98.8, 99.6)0.7 (0.4, 1.2)98.6 (97.6, 99.2)1.4 (0.8, 2.4)0.0 (NA)
40-5999.2 (98.0, 99.6)0.8 (0.4, 2.0)98.3 (96.1, 99.3)1.7 (0.7, 3.9)0.0 (NA)
>=6099.0 (98.2, 99.5)1.0 (0.5, 1.8)98.1 (96.4, 99.0)1.9 (1.0, 3.6)0.0 (NA)

By Race/Ethnicity and Sex

VariantRace-ethnicitySexAllele
% (95% CI)
Genotype
% (95% CI)
rs1229984AGAAAGGG
Non-Hispanic WhiteMale5.3 (4.2, 6.6)94.7 (93.4, 95.8)0.2 (0.0, 1.0)10.2 (8.3, 12.6)89.6 (87.1, 91.7)
Female4.1 (3.0, 5.6)95.9 (94.4, 97.0)0.2 (0.0, 0.7)7.9 (5.8, 10.5)92.0 (89.2, 94.1)
Non-Hispanic BlackMale1.6 (0.8, 3.4)98.4 (96.6, 99.2)0.0 (NA)3.3 (1.5, 6.8)96.7 (93.2, 98.5)
Female1.1 (0.7, 1.8)98.9 (98.2, 99.3)0.0 (NA)2.3 (1.4, 3.6)97.7 (96.4, 98.6)
Mexican AmericanMale5.0 (4.3, 5.7)95.0 (94.3, 95.7)0.1 (0.0, 0.6)9.7 (8.4, 11.3)90.2 (88.7, 91.5)
Female6.0 (4.9, 7.2)94.0 (92.8, 95.1)0.0 (0.0, 0.2)11.9 (9.8, 14.3)88.1 (85.6, 90.2)
rs17033AGAAAGGG
Non-Hispanic WhiteMale91.3 (90.1, 92.4)8.7 (7.6, 9.9)83.0 (80.8, 85.1)16.7 (14.6, 18.9)0.3 (0.1, 1.6)
Female91.7 (90.5, 92.8)8.3 (7.2, 9.5)84.6 (82.4, 86.6)14.2 (12.3, 16.5)1.2 (0.7, 2.0)
Non-Hispanic BlackMale93.1 (91.0, 94.7)6.9 (5.3, 9.0)86.8 (83.2, 89.8)12.5 (9.8, 15.8)0.7 (0.3, 1.6)
Female93.1 (91.9, 94.2)6.9 (5.8, 8.1)86.9 (84.6, 88.9)12.5 (10.6, 14.7)0.6 (0.2, 1.7)
Mexican AmericanMale69.2 (66.9, 71.4)30.8 (28.6, 33.1)47.8 (44.0, 51.7)42.7 (38.2, 47.3)9.5 (7.4, 12.1)
Female70.8 (68.6, 73.0)29.2 (27.0, 31.4)50.8 (47.9, 53.8)39.9 (37.2, 42.7)9.2 (7.2, 11.7)
rs2066702CTCCCTTT
Non-Hispanic WhiteMale99.6 (99.0, 99.8)0.4 (0.2, 1.0)99.1 (97.9, 99.6)0.9 (0.4, 2.1)0.0 (NA)
Female99.7 (99.4, 99.8)0.3 (0.2, 0.6)99.3 (98.7, 99.6)0.7 (0.4, 1.3)0.0 (NA)
Non-Hispanic BlackMale79.3 (76.3, 81.9)20.7 (18.1, 23.7)63.1 (58.3, 67.7)32.3 (28.2, 36.8)4.6 (3.1, 6.7)
Female80.7 (78.9, 82.3)19.3 (17.7, 21.1)64.7 (61.4, 67.9)31.9 (28.6, 35.4)3.4 (2.4, 4.7)
Mexican AmericanMale99.0 (98.3, 99.4)1.0 (0.6, 1.7)98.0 (96.7, 98.7)2.0 (1.3, 3.3)0.0 (NA)
Female99.3 (98.8, 99.6)0.7 (0.4, 1.2)98.6 (97.7, 99.2)1.4 (0.8, 2.3)0.0 (NA)

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