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U.S. Genome Variation Estimates

ADH1B Allele and Genotype Frequencies

Available polymorphism(s)

  Common Designations  

rs number

Nucleotide change Amino acid change

Genotyping method

rs1229984

Ex3+23G>A Arg48His TaqMan
rs17033 Ex9+77A>G   TaqMan
rs2066702 Ex9+5C>T Arg370Cys TaqMan

 

Allele and Genotype Frequencies for Subpopulations

 


 

By Race/Ethnicity

Variant Race-ethnicity Allele
% (95% CI)
Chi-square
P-value†
Genotype
% (95% CI)
Chi-square
P-value†
HW
P-value‡
rs1229984 A G   AA AG GG    
Non-Hispanic White 4.7 (3.9, 5.6) 95.3 (94.4, 96.1) <0.001 0.2 (0.1, 0.5) 9.0 (7.6, 10.7) 90.8 (89.0, 92.3) <0.001 0.89
Non-Hispanic Black 1.4 (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 American 5.5 (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)    
rs17033 A G   AA AG GG    
Non-Hispanic White 91.5 (90.8, 92.2) 8.5 (7.8, 9.2) <0.001 83.8 (82.5, 85.1) 15.4 (14.0, 16.9) 0.8 (0.4, 1.4) <0.001 0.82
Non-Hispanic Black 93.1 (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 American 70.0 (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)    
rs2066702 C T   CC CT TT    
Non-Hispanic White 99.6 (99.3, 99.8) 0.4 (0.2, 0.7) <0.001 99.2 (98.7, 99.6) 0.8 (0.4, 1.3) 0.0 (NA) <0.001 0.86
Non-Hispanic Black 80.0 (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 American 99.1 (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*

Variant Age (years) Allele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs1229984 A G   AA AG GG  
12-19 8.1 (5.2, 12.6) 91.9 (87.4, 94.8) 0.412 2.6 (1.1, 6.0) 11.1 (7.6, 15.9) 86.3 (79.9, 90.9) 0.269
20-39 5.9 (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)
40-59 6.4 (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)
>=60 6.3 (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)
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)  
rs17033 A G   AA AG GG  
12-19 91.3 (88.9, 93.2) 8.7 (6.8, 11.1) 0.153 84.2 (80.1, 87.5) 14.2 (11.2, 17.9) 1.6 (0.9, 3.0) 0.058
20-39 89.4 (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)
40-59 89.3 (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)
>=60 91.1 (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)
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)  
rs2066702 C T   CC CT TT  
12-19 96.4 (95.2, 97.3) 3.6 (2.7, 4.8) 0.021 93.4 (91.4, 94.9) 6.1 (4.8, 7.7) 0.6 (0.2, 1.3) 0.002
20-39 96.8 (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)
40-59 97.4 (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)
>=60 97.9 (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)
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 participants, regardless of race/ethnicity.

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By Sex* 

Variant Sex Allele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs1229984 A G   AA AG GG  
Male 6.9 (5.6, 8.5) 93.1 (91.5, 94.4) 0.216 1.7 (0.8, 3.3) 10.4 (8.9, 12.2) 87.9 (85.6, 89.9) 0.462
Female 6.0 (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)
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)  
rs17033 A G   AA AG GG  
Male 89.9 (88.7, 91.0) 10.1 (9.0, 11.3) 0.859 80.8 (78.5, 82.9) 18.2 (16.3, 20.3) 1.0 (0.6, 1.6) 0.083
Female 90.0 (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)
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)  
rs2066702 C T   CC CT TT  
Male 97.0 (96.0, 97.8) 3.0 (2.2, 4.0) 0.435 94.5 (92.7, 95.9) 5.0 (3.8, 6.6) 0.5 (0.3, 0.8) 0.750
Female 97.2 (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)
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 participants, regardless of race/ethnicity.

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By Race/Ethnicity and Age

Variant Race-ethnicity Age (years) Allele
% (95% CI)
Genotype
% (95% CI)
rs4646994 A G AA AG GG
Non-Hispanic White 12-19 6.1 (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)
20-39 4.3 (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)
40-59 4.3 (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)
>=60 5.1 (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 Black 12-19 1.2 (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)
20-39 1.4 (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)
40-59 1.8 (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)
>=60 0.6 (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 American 12-19 6.0 (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)
20-39 5.1 (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)
40-59 5.3 (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)
>=60 6.2 (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)
rs17033 A G AA AG GG
Non-Hispanic White 12-19 93.3 (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)
20-39 91.5 (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)
40-59 90.3 (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)
>=60 92.3 (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 Black 12-19 94.2 (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)
20-39 92.6 (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)
40-59 93.7 (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)
>=60 92.2 (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 American 12-19 69.8 (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)
20-39 70.9 (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)
40-59 68.1 (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)
>=60 69.4 (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)
rs2066702 C T CC CT TT
Non-Hispanic White 12-19 100.0 (NA) 0.0 (NA) 100.0 (NA) 0.0 (NA) 0.0 (NA)
20-39 99.5 (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)
40-59 99.7 (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)
>=60 99.6 (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 Black 12-19 79.3 (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)
20-39 79.6 (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)
40-59 81.1 (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)
>=60 80.2 (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 American 12-19 98.8 (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)
20-39 99.3 (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)
40-59 99.2 (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)
>=60 99.0 (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

Variant Race-ethnicity Sex Allele
% (95% CI)
Genotype
% (95% CI)
rs1229984 A G AA AG GG
Non-Hispanic White Male 5.3 (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)
Female 4.1 (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 Black Male 1.6 (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)
Female 1.1 (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 American Male 5.0 (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)
Female 6.0 (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)
rs17033 A G AA AG GG
Non-Hispanic White Male 91.3 (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)
Female 91.7 (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 Black Male 93.1 (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)
Female 93.1 (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 American Male 69.2 (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)
Female 70.8 (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)
rs2066702 C T CC CT TT
Non-Hispanic White Male 99.6 (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)
Female 99.7 (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 Black Male 79.3 (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)
Female 80.7 (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 American Male 99.0 (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)
Female 99.3 (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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