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U.S. Genome Variation Estimates

CBS Allele and Genotype Frequencies

Available polymorphism(s)

Common Designations

rs number

Nucleotide changeAmino 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

VariantRace-ethnicityAllele
% (95% CI)
Chi-square
P-value†
Genotype
% (95% CI)
Chi-square
P-value†
HW
P-value‡
844ins68IWIIIWWW
Non-Hispanic White8.1 (7.1, 9.2)91.9 (90.8, 92.9)<0.0010.5 (0.3, 0.8)15.3 (13.3, 17.5)84.3 (82.1, 86.2)<0.0010.44
Non-Hispanic Black25.9 (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 American6.3 (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*

VariantAge (years)Allele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
844ins68IWIIIWWW
12-1911.6 (9.5, 14.1)88.4 (85.9, 90.5)0.2422.1 (1.3, 3.5)18.9 (15.5, 23.0)78.9 (74.6, 82.7)0.095
20-3910.3 (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)
40-599.5 (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)
>=608.8 (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)
Total10.0 (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*

VariantSexAllele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
844ins68IWIIIWWW
Male9.7 (8.4, 11.3)90.3 (88.7, 91.6)0.5731.1 (0.7, 1.6)17.3 (14.8, 20.1)81.6 (78.7, 84.2)0.764
Female10.2 (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)
Total10.0 (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

VariantRace-ethnicityAge (years)Allele
% (95% CI)
Genotype
% (95% CI)
844ins68IWIIIWWW
Non-Hispanic White12-198.6 (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)
20-398.3 (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)
40-598.3 (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)
>=607.3 (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 Black12-1927.6 (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)
20-3926.0 (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)
40-5925.0 (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)
>=6024.6 (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 American12-198.1 (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)
20-395.9 (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)
40-595.5 (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)
>=606.5 (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

VariantRace-ethnicitySexAllele
% (95% CI)
Genotype
% (95% CI)
844ins68IWIIIWWW
Non-Hispanic WhiteMale8.0 (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)
Female8.2 (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 BlackMale26.3 (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)
Female25.5 (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 AmericanMale6.1 (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)
Female6.6 (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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