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. Author manuscript; available in PMC: 2015 Aug 1.
Published in final edited form as: Hum Mutat. 2014 Aug;35(8):915–926. doi: 10.1002/humu.22583

Table 3.

Estimated carrier rates and prevalence of GNE myopathy1

1000 Genomes ESP NIH-UDP Total
GNE variant/total alleles2 10/2184 27/13006 4/1434 41/16624
GNE variant allele frequency 1/218 1/482 1/360 1/406
Carrier rate (heterozygotes) 1/109 1/241 1/180 1/203
Predicted Prevalence 1/47710 1/232019 1/128522 1/164474
Affected per million 21 4 8 6
1

Calculated according to the Hardy-Weinberg principle. See Supp. Tables S3 for details.

2

Total alleles containing GNE variants, not including the 3 common GNE SNPs (rs35224402/p.D239E, rs35638832/p.I454V, and rs121908627/p.V727L).