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U.S. Genome Variation Estimates

ALAD Allele and Genotype Frequencies

Available polymorphism(s)

Common Designations

rs number

Nucleotide changeAmino acid change

Genotyping method

rs1800435

Ex4+13G>C G177CLys68Asn Lys88AsnTaqMan

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‡
rs1800435CGCCCGGG
Non-Hispanic White8.1 (7.0, 9.3)91.9 (90.7, 93.0)<0.0010.6 (0.3, 1.2)15.1 (13.3, 17.0)84.4 (82.2, 86.3)<0.0010.63
Non-Hispanic Black1.3 (1.0, 1.9)98.7 (98.1, 99.0)0.0 (NA)2.7 (1.9, 3.7)97.3 (96.3, 98.1)0.48
Mexican American4.5 (3.6, 5.5)95.5 (94.5, 96.4)0.3 (0.1, 1.0)8.4 (6.8, 10.5)91.3 (89.3, 93.0)0.69
Total*6.5 (5.7, 7.4)93.5 (92.6, 94.3)0.4 (0.2, 0.9)12.2 (10.9, 13.6)87.4 (85.9, 88.8)

* 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
rs1800435CGCCCGGG
12-196.4 (4.3, 9.4)93.6 (90.6, 95.7)0.1960.6 (0.1, 2.3)11.7 (7.9, 16.8)87.7 (82.3, 91.7)0.218
20-395.5 (4.5, 6.7)94.5 (93.3, 95.5)0.4 (0.1, 1.6)10.2 (8.3, 12.5)89.4 (87.1, 91.2)
40-597.4 (5.8, 9.4)92.6 (90.6, 94.2)0.4 (0.1, 1.1)14.0 (11.1, 17.6)85.6 (81.9, 88.7)
>=607.3 (5.9, 9.0)92.7 (91.0, 94.1)0.5 (0.2, 1.6)13.6 (11.1, 16.6)85.8 (82.7, 88.5)
Total6.5 (5.7, 7.4)93.5 (92.6, 94.3)0.4 (0.2, 0.9)12.2 (10.9, 13.6)87.4 (85.9, 88.8)

* 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
rs1800435CGCCCGGG
Male6.5 (5.3, 7.9)93.5 (92.1, 94.7)0.9030.7 (0.3, 1.6)11.6 (9.7, 13.7)87.8 (85.4, 89.8)0.156
Female6.6 (5.7, 7.6)93.4 (92.4, 94.3)0.2 (0.1, 0.6)12.7 (11.0, 14.6)87.1 (85.2, 88.8)
Total6.5 (5.7, 7.4)93.5 (92.6, 94.3)0.4 (0.2, 0.9)12.2 (10.9, 13.6)87.4 (85.9, 88.8)

* 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)
rs1800435CGCCCGGG
Non-Hispanic White12-198.9 (6.0, 13.1)91.1 (86.9, 94.0)0.8 (0.2, 3.5)16.2 (10.9, 23.4)82.9 (75.5, 88.5)
20-396.8 (5.5, 8.4)93.2 (91.6, 94.5)0.5 (0.1, 2.5)12.6 (10.3, 15.4)86.9 (84.0, 89.3)
40-599.0 (6.9, 11.6)91.0 (88.4, 93.1)0.5 (0.2, 1.4)17.0 (13.3, 21.6)82.5 (77.7, 86.4)
>=608.5 (6.9, 10.5)91.5 (89.5, 93.1)0.6 (0.2, 1.9)15.9 (12.9, 19.5)83.5 (79.8, 86.6)
Non-Hispanic Black12-191.2 (0.7, 2.1)98.8 (97.9, 99.3)0.0 (NA)2.3 (1.3, 4.1)97.7 (95.9, 98.7)
20-391.6 (1.0, 2.5)98.4 (97.5, 99.0)0.0 (NA)3.1 (2.0, 4.9)96.9 (95.1, 98.0)
40-591.1 (0.6, 1.9)98.9 (98.1, 99.4)0.0 (NA)2.1 (1.2, 3.8)97.9 (96.2, 98.8)
>=601.4 (0.6, 2.8)98.6 (97.2, 99.4)0.0 (NA)2.7 (1.3, 5.6)97.3 (94.4, 98.7)
Mexican American12-194.5 (3.1, 6.6)95.5 (93.4, 96.9)0.4 (0.1, 3.5)8.2 (5.1, 12.9)91.4 (87.1, 94.3)
20-394.8 (3.7, 6.3)95.2 (93.7, 96.3)0.3 (0.1, 1.1)9.1 (6.8, 12.1)90.6 (87.7, 92.9)
40-594.4 (3.0, 6.4)95.6 (93.6, 97.0)0.2 (0.0, 1.5)8.4 (5.6, 12.3)91.4 (87.5, 94.2)
>=602.6 (1.6, 4.3)97.4 (95.7, 98.4)0.0 (NA)5.3 (3.2, 8.6)94.7 (91.4, 96.8)

By Race/Ethnicity and Sex

VariantRace-ethnicitySexAllele
% (95% CI)
Genotype
% (95% CI)
rs1800435CGCCCGGG
Non-Hispanic WhiteMale8.0 (6.4, 10.0)92.0 (90.0, 93.6)0.9 (0.4, 2.3)14.2 (11.8, 17.1)84.8 (81.5, 87.6)
Female8.1 (7.0, 9.4)91.9 (90.6, 93.0)0.2 (0.1, 0.7)15.8 (13.8, 18.1)84.0 (81.6, 86.1)
Non-Hispanic BlackMale1.6 (0.9, 2.7)98.4 (97.3, 99.1)0.0 (NA)3.2 (1.9, 5.4)96.8 (94.6, 98.1)
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 AmericanMale4.8 (4.0, 5.8)95.2 (94.2, 96.0)0.2 (0.0, 1.3)9.3 (7.3, 11.6)90.6 (88.4, 92.4)
Female4.2 (3.0, 5.7)95.8 (94.3, 97.0)0.4 (0.1, 1.2)7.6 (5.5, 10.3)92.1 (89.2, 94.2)

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