Table 1 Non-reference sample counts in known ancestrally divergent genes.

From: The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

 

African

Latino / Admixed American

East Asian

European

Middle Eastern

Other

South Asian

APOL1 (G1 & G2 alleles)

17,969/22,897 (78.48%)

1041/15,893 (6.55%)

1/2113 (0.05%)

60/49,668 (0.12%)

1/193 (0.52%)

1166/6886 (16.93%)

2/940 (0.21%)

HBB (rs334)

2059/22,897 (8.99%)

229/15,893 (1.44%)

0/2113 (0.00%)

6/49,668 (0.01%)

0/193 (0.00%)

202/6886 (2.93%)

2/940 (0.21%)

  1. To confirm the presence of known alleles with ancestral divergence, we examined the APOL1 G1 and G2 alleles, as well as the rs334 SNP in the HBB gene. The counts in the table above include all instances of the rs73885319, rs60910145 SNPS (APOL1 G1 allele) as well as the G2 deletion (rs71785313) and the rs334 allele in the HBB gene, associated with Sickle-cell disease. Participants may carry more than one allele. These variants are present at a higher rate in participants with African ancestry, as expected.
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