Table 2.
Missense nsSNPs shown to be detrimental by sequence-based methods.
| SNP IDs | Mutations | Meta-SNP | Mutation Assessor | PANTHER | PredictSNP | SNAP | PhD- SNP |
SNPs&GO |
|---|---|---|---|---|---|---|---|---|
| rs5743316 | N284I | Disease | High | Probably damaging | Deleterious | Deleterious | Deleterious | Disease |
| rs199768900 | R867Q | Disease | Medium | Probably damaging | Deleterious | Deleterious | Deleterious | Disease |
| rs200214332 | R791G | Disease | Medium | Probably damaging | Deleterious | Deleterious | Deleterious | Disease |
| rs201540925 | A839D | Disease | Medium | Probably damaging | Deleterious | Deleterious | Deleterious | Disease |
| rs748141748 | A802E | Disease | Medium | Probably damaging | Deleterious | Deleterious | Deleterious | Disease |
| rs752889035 | C37R | Disease | Medium | Probably damaging | Deleterious | Deleterious | Deleterious | Disease |
| rs760275329 | Q538P | Disease | Medium | Probably damaging | Deleterious | Deleterious | Deleterious | Disease |
| rs768091235 | L360P | Disease | High | Probably damaging | Deleterious | Deleterious | Deleterious | Disease |
*Note: PANTHER: Between 0 and 1. (If > 0.5 mutation is predicted Disease).
PhD-SNP: Between 0 and 1.(If >0.5 mutation is predicted Disease).
SNAP: Output normalized between 0 and 1 (If >0.5 mutation is predicted Disease).
Meta-SNP: Between 0 and 1. (If >0.5 mutation is predicted Disease).
SNPs&GO : Disease probability (if >0.5 mutation is predicted Disease).