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. Author manuscript; available in PMC: 2020 May 19.
Published in final edited form as: Genet Med. 2019 Jun 4;21(11):2442–2452. doi: 10.1038/s41436-019-0535-9

Table 3.

Summary statistics for p.Val37Ile

All1 Cases2 Population3 Counsyl OR 95% CI Z P value
Total number of individuals tested for GJB2 17635 802339 654426
Total number of alleles tested for GJB2 35270 1604678 1308852
Total number of individuals with p.Val37Ile 464 10233 7609
Total number of p.Val37Ile heterozygotes 313 9887 7370
Total number of p.Val37Ile homozygotes 151 346 239 20 17–24 31 <0.0001
Total number of p.Val37Ile compound heterozygotes4 115 N/A5 96
Total number of p.Val37Ile alleles 615 10488 7848
Overall p.Val37Ile allele frequency 0.0174 0.0065 0.0060
Number of Asian individuals tested for GJB2 2066 75857 60355
Number of Asian alleles tested for GJB2 4132 151714 120710
Number of Asian individuals with p.Val37Ile 197 6173 4023
Number of Asian p.Val37Ile heterozygotes 113 5898 3852
Number of Asian p.Val37Ile homozygotes 84 275 171 12 9.1–15 19 <0.0001
Number of Asian p.Val37Ile compound heterozygotes4 with another GJB2 pathogenic allele 49 N/A5 466 196 15–246 266 <0.00016
Number of Asian p.Val37Ile alleles 281 6360 4194 1.7 1.5–1.9 8.1 <0.0001
p.Val37Ile allele frequency in Asians 0.0680 0.0419 0.0347
1.

Only probands (unrelated individuals) were counted. However, we could not rule out the possibility of related cases from different sites because cases were de-identified before being shared. Nevertheless, the likelihood of such occurrence would be low and would not significantly impact the conclusion.

2.

The total number of cases included in statistical analyses did not include BCH, DY, and GDWC where the total number of individuals tested at these sites were not available.

3.

The total population data were from Counsyl, CUHK, TAU, UNC, and gnomAD.

4.

Compound heterozygosity was presumed in individuals with a second pathogenic or likely pathogenic variant in GJB2 that had never been reported to have occurred in cis.

5.

NA: Not available, because individual allele state information is not available from gnomAD.

6.

Analyses involving compound heterozygotes were performed using Counsyl data as the population control (see Methods).