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<title>Genomics|Population Research|U.S. Genome Variation Estimates|Frequencies

U.S. Genome Variation Estimates

CBS Allele and Genotype Frequencies
 Available polymorphism(s)
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rs number

Common Designations

           Nucleotide change                 Amino acid change

Genotyping method

no rs number

844ins68
(68-bp insertion in exon 8)

 

MGB Eclipse

 


 Allele and Genotype Frequencies for Subpopulations

 

BY RACE/ETHNICITY    [top]

Variant Race-ethnicity Allele
% (95% CI)		 Chi-square
P-value†		 Genotype
% (95% CI)		 Chi-square
P-value†		 HW
P-value‡
844ins68 I W   II IW WW    
  Non-Hispanic White 8.1 (7.1, 9.2) 91.9 (90.8, 92.9) <0.001 0.5 (0.3, 0.8) 15.3 (13.3, 17.5) 84.3 (82.1, 86.2) <0.001 0.44
  Non-Hispanic Black 25.9 (23.8, 28.1) 74.1 (71.9, 76.2) 6.7 (5.4, 8.4) 38.3 (35.9, 40.7) 55.0 (51.8, 58.1) 0.99
  Mexican American 6.3 (5.6, 7.2) 93.7 (92.8, 94.4) 0.4 (0.2, 0.8) 11.9 (10.3, 13.7) 87.7 (86.0, 89.3) 0.28
  Total* 10.0 (8.9, 11.1) 90.0 (88.9, 91.1)   1.2 (0.9, 1.5) 17.6 (15.7, 19.7) 81.2 (79.1, 83.3)    

* 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.

 

BY AGE*  [top]

Variant Age (years) Allele
% (95% CI)		 Chi-square
P-value		 Genotype
% (95% CI)		 Chi-square
P-value
844ins68 I W   II IW WW  
  12-19 11.6 (9.5, 14.1) 88.4 (85.9, 90.5) 0.242 2.1 (1.3, 3.5) 18.9 (15.5, 23.0) 78.9 (74.6, 82.7) 0.095
  20-39 10.3 (8.6, 12.3) 89.7 (87.7, 91.4) 1.2 (0.7, 1.9) 18.3 (15.3, 21.6) 80.6 (77.0, 83.7)
  40-59 9.5 (7.7, 11.7) 90.5 (88.3, 92.3) 0.8 (0.5, 1.3) 17.4 (13.8, 21.8) 81.8 (77.5, 85.4)
  >=60 8.8 (7.5, 10.3) 91.2 (89.7, 92.5) 1.0 (0.7, 1.6) 15.5 (13.1, 18.1) 83.5 (80.7, 85.9)
  Total 10.0 (8.9, 11.1) 90.0 (88.9, 91.1)   1.2 (0.9, 1.5) 17.6 (15.7, 19.7) 81.2 (79.1, 83.3)  

* Includes all participants, regardless of race/ethnicity.

 

BY SEX*  [top]

Variant Sex Allele
% (95% CI)		 Chi-square
P-value		 Genotype
% (95% CI)		 Chi-square
P-value
844ins68 I W   II IW WW  
  Male 9.7 (8.4, 11.3) 90.3 (88.7, 91.6) 0.573 1.1 (0.7, 1.6) 17.3 (14.8, 20.1) 81.6 (78.7, 84.2) 0.764
  Female 10.2 (8.9, 11.6) 89.8 (88.4, 91.1) 1.3 (1.0, 1.6) 17.9 (15.5, 20.5) 80.9 (78.1, 83.3)
  Total 10.0 (8.9, 11.1) 90.0 (88.9, 91.1)   1.2 (0.9, 1.5) 17.6 (15.7, 19.7) 81.2 (79.1, 83.3)  

* Includes all participants, regardless of race/ethnicity.

 

BY RACE/ETHNICITY AND AGE    [top]

Variant Race-ethnicity Age (years) Allele
% (95% CI)		 Genotype
% (95% CI)
844ins68 I W II IW WW
  Non-Hispanic White 12-19 8.6 (6.4, 11.6) 91.4 (88.4, 93.6) 1.2 (0.3, 4.5) 14.9 (11.4, 19.1) 83.9 (79.2, 87.8)
  20-39 8.3 (6.7, 10.2) 91.7 (89.8, 93.3) 0.4 (0.2, 1.2) 15.7 (12.7, 19.2) 83.9 (80.3, 87.0)
  40-59 8.3 (5.9, 11.4) 91.7 (88.6, 94.1) 0.2 (0.0, 0.9) 16.2 (11.5, 22.4) 83.6 (77.5, 88.3)
  >=60 7.3 (6.1, 8.7) 92.7 (91.3, 93.9) 0.5 (0.2, 1.1) 13.7 (11.3, 16.4) 85.9 (83.2, 88.2)
  Non-Hispanic Black 12-19 27.6 (23.2, 32.5) 72.4 (67.5, 76.8) 8.5 (5.8, 12.4) 38.2 (32.7, 44.1) 53.3 (46.2, 60.2)
  20-39 26.0 (23.4, 28.9) 74.0 (71.1, 76.6) 6.3 (4.1, 9.7) 39.4 (35.7, 43.3) 54.3 (50.4, 58.1)
  40-59 25.0 (21.8, 28.6) 75.0 (71.4, 78.2) 6.2 (4.4, 8.6) 37.7 (32.4, 43.4) 56.1 (50.2, 61.8)
  >=60 24.6 (20.9, 28.7) 75.4 (71.3, 79.1) 6.7 (4.7, 9.6) 35.7 (29.4, 42.6) 57.5 (50.6, 64.2)
  Mexican American 12-19 8.1 (6.1, 10.5) 91.9 (89.5, 93.9) 0.1 (0.0, 0.7) 15.9 (12.0, 20.8) 84.0 (79.1, 87.9)
  20-39 5.9 (5.2, 6.7) 94.1 (93.3, 94.8) 0.5 (0.2, 1.3) 10.8 (9.2, 12.6) 88.7 (87.1, 90.1)
  40-59 5.5 (4.2, 7.3) 94.5 (92.7, 95.8) 0.4 (0.1, 3.2) 10.3 (7.9, 13.2) 89.3 (86.2, 91.8)
  >=60 6.5 (4.7, 9.0) 93.5 (91.0, 95.3) 0.0 (NA) 13.0 (9.3, 18.0) 87.0 (82.0, 90.7)

 

BY RACE/ETHNICITY AND SEX    [top]

Variant Race-ethnicity Sex Allele
% (95% CI)		 Genotype
% (95% CI)
844ins68 I W II IW WW
  Non-Hispanic White Male 8.0 (6.5, 9.7) 92.0 (90.3, 93.5) 0.5 (0.2, 1.2) 14.9 (12.3, 18.1) 84.6 (81.3, 87.3)
  Female 8.2 (7.1, 9.6) 91.8 (90.4, 92.9) 0.4 (0.2, 0.9) 15.6 (13.3, 18.2) 84.0 (81.3, 86.3)
  Non-Hispanic Black Male 26.3 (23.1, 29.9) 73.7 (70.1, 76.9) 6.5 (4.6, 8.9) 39.8 (35.1, 44.7) 53.8 (48.3, 59.2)
  Female 25.5 (23.6, 27.4) 74.5 (72.6, 76.4) 7.0 (5.6, 8.7) 37.0 (34.4, 39.7) 56.0 (53.1, 58.9)
  Mexican American Male 6.1 (5.4, 6.9) 93.9 (93.1, 94.6) 0.4 (0.1, 1.2) 11.5 (10.0, 13.2) 88.2 (86.6, 89.6)
  Female 6.6 (5.2, 8.2) 93.4 (91.8, 94.8) 0.4 (0.1, 1.4) 12.3 (9.5, 15.7) 87.3 (84.0, 90.0)
Page last reviewed: October 21, 2008 (archived document)
Page last updated: October 21, 2008
Content Source: National Office of Public Health Genomics