Table 3.

Comparison of allele frequencies for specific variants with GnomAD.

Variant	GnomAD AF	All of Us AF	p value (Two-tailed z test)	Population
BRCA2 c.5946delT (p.Ser1982Argfs*22)	0.0364% (26/71,468)	0.0342% (34/99,336)	0.815	Eur
BRCA2 c.2808_2811delAAAG (p.Lys938Ilefs*7)	0.0014% (2/145,080)	0.0020% (2/99336)	0.703	Eur
BRCA2 c.8537_8538delAG (p.Ser2846Glufs*2)	0.0021% (3/145,182)	0.0010% (1/99,336)	0.525	Eur
LDLR c.682 G > T (p.Glu228X)	0.0024% (2/82,108)	0.0050% (5/99,336)	0.375	Eur
APOL1 G1 p.S342G - rs73885319 (GRCh38:chr22:36265860:A > G)	22.27% (9208/41,338)	22.36% (10,239/45,794)	0.753	Afr
APOL1 G1 p.I384M - rs60910145 GRCh38:chr22:36265988:T > C/G	22.43% (9047/40,338)	21.94% (10,045/45,794)	0.081	Afr
HBB rs334	4.34% (1799/41,432)	4.50% (2,59/45,794)	0.269	Afr
HFE rs1800562	6.05% (4964/82,106)	6.41% (6371/99,336)	0.001	Eur

To evaluate whether self-selection by participants with known genetic diseases impacts our study, we examined the allele frequencies of eight disease-associated variants (four rare, four common) in comparison with GnomAD. Except for a 6% difference in the common HFE rs1800562 alleles, the frequencies in our study closely match those in GnomAD. GnomAD and All of Us allele frequencies are based on biologically independent samples.