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U.S. Genome Variation Estimates

F5 Allele and Genotype Frequencies

Available polymorphism(s)

rs number
Common Designations

Nucleotide change Amino acid

Genotyping method

rs6025

Ex10-11G>A

Arg534Gln

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‡
rs6025AGAAAGGG
Non-Hispanic White2.6 (2.1, 3.2)97.4 (96.8, 97.9)<0.0010.0 (0.0, 0.1)5.2 (4.2, 6.3)94.8 (93.7, 95.8)<0.0010.49
Non-Hispanic Black0.6 (0.4, 1.0)99.4 (99.0, 99.6)0.0 (NA)1.3 (0.8, 2.1)98.7 (97.9, 99.2)0.80
Mexican American1.0 (0.8, 1.4)99.0 (98.6, 99.2)0.0 (0.0, 0.3)2.0 (1.4, 2.8)98.0 (97.2, 98.5)0.03
Total*2.2 (1.8, 2.7)97.8 (97.3, 98.2)0.0 (0.0, 0.1)4.3 (3.5, 5.3)95.7 (94.6, 96.5)

* 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
rs6025AGAAAGGG
12-192.3 (1.4, 3.7)97.7 (96.3, 98.6)0.1280.0 (NA)4.5 (2.7, 7.4)95.5 (92.6, 97.3)0.264
20-391.7 (1.0, 2.8)98.3 (97.2, 99.0)0.0 (0.0, 0.1)3.4 (2.0, 5.6)96.6 (94.4, 98.0)
40-593.0 (2.3, 4.0)97.0 (96.0, 97.7)0.0 (NA)6.0 (4.5, 8.0)94.0 (92.0, 95.5)
>=601.9 (1.2, 3.0)98.1 (97.0, 98.8)0.1 (0.0, 0.5)3.7 (2.3, 5.9)96.3 (94.0, 97.7)
Total2.2 (1.8, 2.7)97.8 (97.3, 98.2)0.0 (0.0, 0.1)4.3 (3.5, 5.3)95.7 (94.6, 96.5)

* 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
rs6025AGAAAGGG
Male2.4 (1.7, 3.4)97.6 (96.6, 98.3)0.3230.0 (0.0, 0.2)4.7 (3.3, 6.7)95.3 (93.3, 96.7)0.496
Female2.0 (1.7, 2.4)98.0 (97.6, 98.3)0.0 (0.0, 0.0)4.0 (3.3, 4.7)96.0 (95.3, 96.7)
Total2.2 (1.8, 2.7)97.8 (97.3, 98.2)0.0 (0.0, 0.1)4.3 (3.5, 5.3)95.7 (94.6, 96.5)

* 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)
rs6025AGAAAGGG
Non-Hispanic White12-192.8 (1.7, 4.4)97.2 (95.6, 98.3)0.0 (NA)5.5 (3.4, 8.8)94.5 (91.2, 96.6)
20-392.2 (1.3, 3.8)97.8 (96.2, 98.7)0.0 (NA)4.4 (2.6, 7.6)95.6 (92.4, 97.4)
40-593.4 (2.6, 4.5)96.6 (95.5, 97.4)0.0 (NA)6.8 (5.1, 9.0)93.2 (91.0, 94.9)
>=602.1 (1.3, 3.4)97.9 (96.6, 98.7)0.1 (0.0, 0.6)4.0 (2.4, 6.6)95.9 (93.3, 97.5)
Non-Hispanic Black12-190.8 (0.3, 2.2)99.2 (97.8, 99.7)0.0 (NA)1.7 (0.7, 4.3)98.3 (95.7, 99.3)
20-390.6 (0.3, 1.2)99.4 (98.8, 99.7)0.0 (NA)1.1 (0.6, 2.3)98.9 (97.7, 99.4)
40-590.8 (0.3, 2.1)99.2 (97.9, 99.7)0.0 (NA)1.6 (0.6, 4.2)98.4 (95.8, 99.4)
>=600.1 (0.0, 1.2)99.9 (98.8, 100.0)0.0 (NA)0.3 (0.0, 2.4)99.7 (97.6, 100.0)
Mexican American12-191.4 (0.5, 3.4)98.6 (96.6, 99.5)0.0 (NA)2.8 (1.1, 6.8)97.2 (93.2, 98.9)
20-390.9 (0.6, 1.5)99.1 (98.5, 99.4)0.1 (0.0, 0.7)1.7 (1.0, 2.8)98.2 (97.1, 98.9)
40-590.9 (0.4, 2.4)99.1 (97.6, 99.6)0.0 (NA)1.9 (0.7, 4.7)98.1 (95.3, 99.3)
>=601.0 (0.4, 2.9)99.0 (97.1, 99.6)0.0 (NA)2.1 (0.7, 5.8)97.9 (94.2, 99.3)

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By Race/Ethnicity and Sex

VariantRace-ethnicitySexAllele
% (95% CI)
Genotype
% (95% CI)
rs6025AGAAAGGG
Non-Hispanic WhiteMale2.7 (1.8, 3.8)97.3 (96.2, 98.2)0.0 (0.0, 0.3)5.3 (3.6, 7.6)94.7 (92.4, 96.3)
Female2.5 (2.1, 3.1)97.5 (96.9, 97.9)0.0 (NA)5.1 (4.2, 6.1)94.9 (93.9, 95.8)
Non-Hispanic BlackMale0.6 (0.4, 1.0)99.4 (99.0, 99.6)0.0 (NA)1.2 (0.8, 2.0)98.8 (98.0, 99.2)
Female0.6 (0.3, 1.3)99.4 (98.7, 99.7)0.0 (NA)1.3 (0.6, 2.6)98.7 (97.4, 99.4)
Mexican AmericanMale1.3 (0.8, 2.1)98.7 (97.9, 99.2)0.0 (NA)2.6 (1.6, 4.3)97.4 (95.7, 98.4)
Female0.7 (0.4, 1.3)99.3 (98.7, 99.6)0.1 (0.0, 0.7)1.3 (0.7, 2.4)98.6 (97.6, 99.2)

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