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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   

Variant Race-ethnicity Allele
% (95% CI)
Chi-square
P-value†
Genotype
% (95% CI)
Chi-square
P-value†
HW
P-value‡
rs6025 A G   AA AG GG    
Non-Hispanic White 2.6 (2.1, 3.2) 97.4 (96.8, 97.9) <0.001 0.0 (0.0, 0.1) 5.2 (4.2, 6.3) 94.8 (93.7, 95.8) <0.001 0.49
Non-Hispanic Black 0.6 (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 American 1.0 (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*

Variant Age (years) Allele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs6025 A G   AA AG GG  
12-19 2.3 (1.4, 3.7) 97.7 (96.3, 98.6) 0.128 0.0 (NA) 4.5 (2.7, 7.4) 95.5 (92.6, 97.3) 0.264
20-39 1.7 (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)
40-59 3.0 (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)
>=60 1.9 (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)
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 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
rs6025 A G   AA AG GG  
Male 2.4 (1.7, 3.4) 97.6 (96.6, 98.3) 0.323 0.0 (0.0, 0.2) 4.7 (3.3, 6.7) 95.3 (93.3, 96.7) 0.496
Female 2.0 (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)
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 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)
rs6025 A G AA AG GG
Non-Hispanic White 12-19 2.8 (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)
20-39 2.2 (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)
40-59 3.4 (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)
>=60 2.1 (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 Black 12-19 0.8 (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)
20-39 0.6 (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)
40-59 0.8 (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)
>=60 0.1 (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 American 12-19 1.4 (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)
20-39 0.9 (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)
40-59 0.9 (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)
>=60 1.0 (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

Variant Race-ethnicity Sex Allele
% (95% CI)
Genotype
% (95% CI)
rs6025 A G AA AG GG
Non-Hispanic White Male 2.7 (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)
Female 2.5 (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 Black Male 0.6 (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)
Female 0.6 (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 American Male 1.3 (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)
Female 0.7 (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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