Disease: IH
| Position | Domain | Domain position | SNV | RS | Source | Comments | MAF | Zygosity | Structural Position | AlphaMissense (IC) | REVEL | Rhapsody | DUET | PolyPhen-2 | Condel | Q(SASA) |
Site annotation |
mCSM PPI |
Predicted PPI site |
AFR | AMR | EAS | EUR | FIN | NFE | SAS |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
31268  |
Ig-151 |
51 | K/T | rs200766837  |
gnomAD-2.1.1 | None | 0.000478653 | None | 131 |
0.1314 | 0.433 | 0.389 | -0.002 | 0.997 | None | 0.7045 | None | None | N | 0 | 0 | 0 | None | 0 | 1.91892E-03 | 6.33456E-04 | 31268 |
Ig-151 |
51 | K/T | rs200766837 |
gnomAD-3.1.2 | None | 0.000183995 | None | 131 |
0.1314 | 0.433 | 0.389 | -0.002 | 0.997 | None | 0.7045 | None | None | N | 0 | 0 | 0 | None | 1.13037E-03 | 2.20478E-04 | 0 | 31268 |
Ig-151 |
51 | K/T | rs200766837 |
Mihailov (2016)
| Genetic analysis of single EST family; co-segregates within family (strongest candidate); incomplete penetrance (n = 5, 5 affected (total 9; 1 unaffected carrier, 1 condition in absence of variant)); not found in ethnic controls | None | het | 131 |
0.1314 | 0.433 | 0.389 | -0.002 | 0.997 | None | 0.7045 | None | None | N | None | None | None | None | None | None | None | 31268 |
Ig-151 |
51 | K/T | rs200766837 |
gnomAD-4.0.0 | None | 0.000315406 | None | 131 |
0.1314 | 0.433 | 0.389 | -0.002 | 0.997 | None | 0.7045 | None | None | N | 1.33469E-05 | 0 | 0 | None | 1.85885E-03 | 3.06818E-04 | 0 |