Table 2.

Summary statistics for p.Met34Thr

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.Met34Thr	391	10835	8336
Total number of p.Met34Thr heterozygotes	362	10754	8282
Total number of p.Met34Thr homozygotes	29	81	54	16	11–25	13	<0.0001
Total number of p.Met34Thr compound heterozygotes4	147	NA5	135
Total number of p.Met34Thr alleles	420	10916	8390
Overall p.Met34Thr allele frequency	0.0119	0.0068	0.0064
Number of European individuals tested for GJB2	7962	382842	304433
Number of European alleles tested for GJB2	15924	765684	608866
Number of European individuals with p.Met34Thr	207	7915	5769
Number of European p.Met34Thr heterozygotes	193	7846	5725
Number of European p.Met34Thr homozygotes	14	69	44	9.8	5.5–17	7.8	<0.0001
Number of European p.Met34Thr compound heterozygotes4 with another GJB2 pathogenic allele	84	N/A5	886	296	22–376	256	<0.00016
Number of European p.Met34Thr alleles	221	7984	5813	1.3	1.2–1.5	4.2	<0.0001
p.Met34Thr allele frequency in Europeans	0.0139	0.0104	0.0095

^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).