Table 5.
Putatively damaging RNF213 rare variants burden tests.
| Carrier Frequency | IRR (95%CI); p-Value | |||||
|---|---|---|---|---|---|---|
| Domain | MMS (n = 20) |
MMD (n = 25) |
Biogear (n = 2504) |
gnomAD (n = 141,456) |
MMS | MMD |
| N-term | 3 (15%) | 3 (12%) | 282 (11%) | NA | 1.33 (0.273–3.932); p = 0.58 * NA ** |
1.07 (0.22–3.15); p = 0.85 * NA ** |
| RING finger | 0 | 2 (8%) | 8 (0.3%) | 227 (0.1%) | 0.00 (0.00–73.05); p = 0.80 * 0.00 (0.00–115.88); p = 0.86 ** |
25.04(2.59–125.47); p = 0.004 * 49.85 (6.00–182.17); p < 0.001 ** |
| C-term | 0 | 4 (16%) | 61 (2.3%) | 1373 (0.9%) | 0.00 (0.00–7.80); p = 0.49 * 0.00 (0.00–19.03); p = 0.66 ** |
6.57(1.73–17.69); p = 0.004 * 16.48 (4.49–42.30); p < 0.001 ** |
| RING finger + C-term | 0 | 6 (24%) | 69 (2.7%) | 1600 (1%) | 0.00 (0.00–6.88); p = 0.46 * 0.00 (0.00–19.03); p = 0.66 ** |
8.71(3.09–19.94); p < 0.001 * 21.22 (7.78–46.29); p < 0.001 ** |
Biogear, in house-exome controls; IRR, incidence rate ratio; CI, confidence interval; NA: data not available. * comparisons made versus Biogear dataset; ** comparisons made versus gnomAD dataset. Comparison of two rates (sample vs. healthy databases) was expressed as ratio of the two rates (IRR: incidence rate ratio) with its 95% confidence interval (calculated with exact Poisson method) and associated p value. Statistical significance was assumed at p < 0.05.