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U.S. Genome Variation Estimates

F2 Allele and Genotype Frequencies

Available polymorphism(s)

Common Designations

rs number

Nucleotide changeAmino acid change

Genotyping method

rs1799963

Ex14-1G>APyrosequencing

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‡
rs1799963AGAAAGGG
Non-Hispanic White1.1 (0.8, 1.7)98.9 (98.3, 99.2)0.0010 (NA)2.3 (1.5, 3.4)97.7 (96.6, 98.5)0.0010.51
Non-Hispanic Black0.3 (0.1, 0.5)99.7 (99.5, 99.9)0 (NA)0.5 (0.3, 1.1)99.5 (98.9, 99.7)0.88
Mexican American1.1 (0.7, 1.7)98.9 (98.3, 99.3)0 (NA)2.2 (1.5, 3.4)97.8 (96.6, 98.5)0.63
Total*1.0 (0.7, 1.3)99.0 (98.7, 99.3)0 (NA)1.9 (1.4, 2.7)98.1 (97.3, 98.6)

* 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
rs1799963AGAAAGGG
12-190.8 (0.4, 1.6)99.2 (98.4, 99.6)0.0800 (NA)1.5 (0.7, 3.2)98.5 (96.8, 99.3)0.103
20-390.6 (0.3, 1.2)99.4 (98.8, 99.7)0 (NA)1.2 (0.6, 2.4)98.8 (97.6, 99.4)
40-591.3 (0.8, 2.2)98.7 (97.8, 99.2)0 (NA)2.7 (1.6, 4.5)97.3 (95.5, 98.4)
>=601.3 (0.9, 1.8)98.7 (98.2, 99.1)0 (NA)2.5 (1.8, 3.6)97.5 (96.4, 98.2)
Total1.0 (0.7, 1.3)99.0 (98.7, 99.3)0 (NA)1.9 (1.4, 2.7)98.1 (97.3, 98.6)

* 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
rs1799963AGAAAGGG
Male0.9 (0.6, 1.3)99.1 (98.7, 99.4)0.6110 (NA)1.8 (1.2, 2.7)98.2 (97.3, 98.8)0.618
Female1.0 (0.7, 1.6)99.0 (98.4, 99.3)0 (NA)2.0 (1.3, 3.1)98.0 (96.9, 98.7)
Total1.0 (0.7, 1.3)99.0 (98.7, 99.3)0 (NA)1.9 (1.4, 2.7)98.1 (97.3, 98.6)

* 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)
rs1799963AGAAAGGG
Non-Hispanic White12-191.0 (0.4, 2.1)99.0 (97.9, 99.6)0 (NA)1.9 (0.8, 4.2)98.1 (95.8, 99.2)
20-390.7 (0.3, 1.6)99.3 (98.4, 99.7)0 (NA)1.4 (0.6, 3.2)98.6 (96.8, 99.4)
40-591.6 (0.9, 2.8)98.4 (97.2, 99.1)0 (NA)3.2 (1.8, 5.6)96.8 (94.4, 98.2)
>=601.4 (1.0, 2.1)98.6 (97.9, 99.0)0 (NA)2.8 (1.9, 4.1)97.2 (95.9, 98.1)
Non-Hispanic Black12-190.3 (0.1, 1.2)99.7 (98.8, 99.9)0 (NA)0.6 (0.2, 2.4)99.4 (97.6, 99.8)
20-390.3 (0.1, 0.8)99.7 (99.2, 99.9)0 (NA)0.5 (0.2, 1.6)99.5 (98.4, 99.8)
40-590.2 (0.1, 0.8)99.8 (99.2, 99.9)0 (NA)0.4 (0.1, 1.6)99.6 (98.4, 99.9)
>=600.3 (0.1, 1.0)99.7 (99.0, 99.9)0 (NA)0.5 (0.1, 2.1)99.5 (97.9, 99.9)
Mexican American12-190.9 (0.3, 2.7)99.1 (97.3, 99.7)0 (NA)1.8 (0.6, 5.4)98.2 (94.6, 99.4)
20-391.2 (0.7, 2.0)98.8 (98.0, 99.3)0 (NA)2.4 (1.4, 3.9)97.6 (96.1, 98.6)
40-591.0 (0.5, 1.9)99.0 (98.1, 99.5)0 (NA)2.0 (1.1, 3.7)98.0 (96.3, 98.9)
>=601.4 (0.6, 3.6)98.6 (96.4, 99.4)0 (NA)2.9 (1.1, 7.2)97.1 (92.8, 98.9)

By Race/Ethnicity and Sex

VariantRace-ethnicitySexAllele
% (95% CI)
Genotype
% (95% CI)
rs1799963AGAAAGGG
Non-Hispanic WhiteMale1.1 (0.7, 1.7)98.9 (98.3, 99.3)0 (NA)2.2 (1.4, 3.5)97.8 (96.5, 98.6)
Female1.2 (0.7, 1.9)98.8 (98.1, 99.3)0 (NA)2.3 (1.4, 3.8)97.7 (96.2, 98.6)
Non-Hispanic BlackMale0.2 (0.0, 0.6)99.8 (99.4, 100.0)0 (NA)0.3 (0.1, 1.2)99.7 (98.8, 99.9)
Female0.4 (0.2, 0.7)99.6 (99.3, 99.8)0 (NA)0.7 (0.4, 1.4)99.3 (98.6, 99.6)
Mexican AmericanMale0.8 (0.5, 1.2)99.2 (98.8, 99.5)0 (NA)1.6 (1.0, 2.4)98.4 (97.6, 99.0)
Female1.4 (0.8, 2.5)98.6 (97.5, 99.2)0 (NA)2.9 (1.7, 5.0)97.1 (95.0, 98.3)

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