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U.S. Genome Variation Estimates

ACE Allele and Genotype Frequencies

Available polymorphism(s)

Common Designations

rs number

Nucleotide changeAmino acid

Genotyping method

rs4646994

289-bp Alu insertion/deletion in intron 16

Capillary Fragment Analysis

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‡
rs4646994DIDDDIII
Non-Hispanic White54.6 (52.8, 56.3)45.4 (43.7, 47.2)<0.00128.8 (25.9, 31.8)51.6 (47.8, 55.3)19.6 (17.7, 21.8)<0.0010.11
Non-Hispanic Black58.7 (56.9, 60.5)41.3 (39.5, 43.1)33.8 (31.5, 36.3)49.8 (47.3, 52.2)16.4 (14.6, 18.5)0.10
Mexican American46.6 (44.5, 48.8)53.4 (51.2, 55.5)20.7 (17.9, 23.7)51.9 (49.5, 54.4)27.4 (25.5, 29.3)0.27
Total*53.8 (52.2, 55.4)46.2 (44.6, 47.8)28.3 (26.0, 30.7)51.1 (48.5, 53.7)20.6 (18.9, 22.4)

* 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
rs4646994DIDDDIII
12-1956.3 (53.6, 59.0)43.7 (41.0, 46.4)0.10431.6 (27.9, 35.5)49.5 (43.2, 55.7)19.0 (14.8, 23.9)0.054
20-3952.0 (49.5, 54.6)48.0 (45.4, 50.5)25.9 (22.3, 29.9)52.2 (47.2, 57.2)21.9 (18.7, 25.3)
40-5954.9 (51.9, 57.9)45.1 (42.1, 48.1)29.6 (25.5, 34.1)50.6 (45.9, 55.2)19.8 (16.8, 23.2)
>=6054.2 (51.5, 56.8)45.8 (43.2, 48.5)28.8 (25.4, 32.5)50.7 (46.9, 54.5)20.5 (17.6, 23.6)
Total53.8 (52.2, 55.4)46.2 (44.6, 47.8)28.3 (26.0, 30.7)51.1 (48.5, 53.7)20.6 (18.9, 22.4)

* 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
rs4646994DIDDDIII
Male53.3 (50.9, 55.7)46.7 (44.3, 49.1)0.45028.1 (25.0, 31.4)50.3 (46.3, 54.4)21.6 (18.6, 24.8)0.678
Female54.3 (52.4, 56.3)45.7 (43.7, 47.6)28.5 (26.1, 31.0)51.8 (48.8, 54.8)19.8 (17.4, 22.3)
Total53.8 (52.2, 55.4)46.2 (44.6, 47.8)28.3 (26.0, 30.7)51.1 (48.5, 53.7)20.6 (18.9, 22.4)

* 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)
rs4646994DIDDDIII
Non-Hispanic White12-1957.3 (53.1, 61.5)42.7 (38.5, 46.9)33.4 (26.9, 40.5)48.0 (37.0, 59.1)18.7 (12.5, 27.0)
20-3952.8 (49.8, 55.9)47.2 (44.1, 50.2)26.4 (21.7, 31.8)52.8 (46.1, 59.5)20.7 (17.0, 25.0)
40-5955.3 (51.5, 59.0)44.7 (41.0, 48.5)29.3 (24.2, 34.9)52.0 (45.6, 58.4)18.7 (14.6, 23.6)
>=6055.0 (52.0, 57.9)45.0 (42.1, 48.0)29.5 (25.6, 33.8)50.8 (46.4, 55.3)19.6 (16.6, 23.0)
Non-Hispanic Black12-1961.4 (57.5, 65.1)38.6 (34.9, 42.5)36.5 (30.5, 43.0)49.7 (42.4, 57.0)13.8 (10.3, 18.3)
20-3958.3 (55.4, 61.2)41.7 (38.8, 44.6)32.8 (29.4, 36.3)51.1 (48.2, 54.1)16.1 (13.2, 19.4)
40-5958.1 (54.6, 61.6)41.9 (38.4, 45.4)33.8 (29.1, 38.9)48.5 (44.1, 53.0)17.6 (14.6, 21.0)
>=6057.3 (54.1, 60.5)42.7 (39.5, 45.9)33.5 (29.1, 38.1)47.8 (40.5, 55.1)18.8 (14.1, 24.5)
Mexican American12-1946.7 (41.9, 51.5)53.3 (48.5, 58.1)20.2 (15.6, 25.7)53.1 (48.6, 57.6)26.8 (21.6, 32.7)
20-3947.2 (43.7, 50.8)52.8 (49.2, 56.3)21.9 (18.0, 26.4)50.6 (46.7, 54.6)27.5 (23.8, 31.5)
40-5946.3 (41.7, 51.0)53.7 (49.0, 58.3)19.7 (15.2, 25.1)53.3 (47.2, 59.3)27.0 (21.3, 33.6)
>=6043.7 (40.2, 47.3)56.3 (52.7, 59.8)16.9 (15.0, 19.0)53.6 (46.9, 60.1)29.5 (23.3, 36.5)

By Race/Ethnicity and Sex

VariantRace-ethnicitySexAllele
% (95% CI)
Genotype
% (95% CI)
rs4646994DIDDDIII
Non-Hispanic WhiteMale54.1 (51.4, 56.8)45.9 (43.2, 48.6)28.6 (24.7, 32.9)51.0 (45.7, 56.3)20.4 (17.2, 24.0)
Female55.0 (52.6, 57.3)45.0 (42.7, 47.4)28.9 (25.7, 32.4)52.1 (47.9, 56.3)19.0 (16.2, 22.1)
Non-Hispanic BlackMale59.5 (56.8, 62.2)40.5 (37.8, 43.2)34.5 (31.2, 38.0)50.0 (46.3, 53.6)15.5 (12.6, 19.0)
Female58.0 (55.7, 60.3)42.0 (39.7, 44.3)33.2 (30.4, 36.1)49.6 (46.6, 52.6)17.2 (14.8, 19.9)
Mexican AmericanMale46.1 (42.7, 49.5)53.9 (50.5, 57.3)19.6 (15.9, 24.0)52.9 (49.9, 55.8)27.5 (24.3, 30.9)
Female47.2 (44.4, 50.1)52.8 (49.9, 55.6)21.7 (18.2, 25.7)51.0 (48.2, 53.8)27.3 (24.9, 29.8)

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