Table 3.
Phenotypic and functional annotation of A118G polymorphism
| dbSNP ID | rs1799971 | PANTHER | SNPeffect | |||
| Ch:Position (hg19) | 6: 154360797 | subPSEC | − 1.7171 | dTANGO | 2.28 | |
| Function | Missense | P deleterious | 0.21706 | Prediction | No effect on the aggregation tendency | |
| Allele | A/G | P substituted | 0.05496 | dWALTZ | − 0.47 | |
| AAS | N40D | NIC | 1.1 | Prediction | No effect on the amyloid propensity | |
| LD (r2) | 1 | SIFT | ||||
| RegulomeDB score | 4 | TI | 0.61 | |||
| eQTL | --- | Prediction | Tolerated | |||
| Regulatory motifs altered | LOD score | PolyPhen | ||||
| Ref | Alt | PSIC | 0.227 | |||
| Hic1 | 11.1 | 1.9 | Prediction | Benign | ||
| RXRA | 1 | 13 | ||||
AAS amino acid substitution, NIC number of independent counts, PSIC position-specific independent counts, subPSEC substitution position-specific evolutionary conservation, TI tolerance index, Ref reference allele, Alt alternative allele; (---) indicates data no found