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CBS Allele and Genotype Frequencies

This website is archived for historical purposes and is no longer being maintained or updated.

Available polymorphism(s)

Common Designations

rs number

 Nucleotide change Amino acid change

Genotyping method

no rs number

 844ins68 (68-bp insertion in exon 8) MGB Eclipse

 

By Race/Ethnicity

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.

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By Age*

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.

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By Sex*

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.

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By Race/Ethnicity and Age

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

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)

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