Table 1.
Overview of PLP ARNSHI variants by gnomAD population
| Pop | Description | Number of PLP Variantsa | Number of Genesb | Number of Individualsc | Vcumf d | GfTotale | ARNSHI prevalencef |
|---|---|---|---|---|---|---|---|
| AFR | African/African American | 104 | 28 | 7,151 | 1.96 × 10−2 | 5.21 × 10−5 | 5.2 |
| ASJ | Ashkenazi Jewish | 44 | 18 | 4,733 | 6.57 × 10−2 | 9.69 × 10−4 | 96.9 |
| EAS | East Asian | 90 | 29 | 8,205 | 3.13 × 10−2 | 1.71 × 10−4 | 17.1 |
| FIN | Finnish | 42 | 18 | 10,504 | 1.82 × 10−2 | 9.52 × 10−5 | 9.5 |
| LAT | Latino | 158 | 36 | 16,064 | 2.77 × 10−2 | 2.61 × 10−4 | 26.1 |
| NFE | Non-Finnish European | 317 | 44 | 52,253 | 3.76 × 10−2 | 2.67 × 10−4 | 26.7 |
| SAS | South Asian | 162 | 40 | 14,694 | 3.99 × 10−2 | 3.37 × 10−4 | 33.7 |
| ALLg | Total | 515 | 53 | 116,218 | 3.45 × 10−2 | 2.14 × 10−4 | 21.4 |
aThe number of PLP variants cannot be compared between populations due to differences in sample sizes
bInformation on each gene’s contribution to ARNSHI can be found in Supplementary Table S5 and S6
cBased on the average exome read depth i.e., ≥10 × and genotype quality score i.e., ≥20 for PLP variants
dCummulative variant frequency for each population
eEstimated frequency of individuals with ARNSHI due to PLP variants
fARNSHI prevalence due to known PLP variants represented as the number affected per 100,000 individuals
gIncludes all gnomAD populations (including “Other”). Pop: population code; PLP: Pathogenic and Likely pathogenic variants