Table 3 of
Xiang, Mol Vis 2014; 20:939-946. Table 3 of
Xiang, Mol Vis 2014; 20:939-946.
Table 3. All variations identified in 186 high myopia cases.
| Variantsa | Amino acid change | Exonic function | Number case (n=186) | Number control (n=526) | MAF in 1000 genome project | Snp ID |
|---|---|---|---|---|---|---|
| c.+1250T>A | NA | UTR3 | 32 | NA | 0.09645 | rs17131232 |
| c.+1015T>C | NA | UTR3 | 13 | NA | 0.02284 | rs76101054 |
| c.+676C>T | NA | UTR3 | 85 | NA | 0.1421 | rs1188952 |
| c.3833A>G | p.E1278G | Missense | 1 | 0 | 0 | Novel |
| c.3266A>G | p.Y1089C | Missense | 1 | NA | 0.01015 | rs193167060 |
| c.2867C>G | p.T956S | Missense | 1 | 0 | 0 | Novel |
| c.2565A>G | p.T855T | Synonymous | 1 | 0 | 0 | Novel |
| c.1338G>A | p.R446R | Synonymous | 1 | NA | 0.002538 | rs200221992 |
| c.1212C>T | p.T404T | Synonymous | 5 | NA | 0.01523 | rs41286763 |
| c.1201A>G | p.T401A | Missense | 1 | 0 | 0 | Novel |
| c.913G>A | p.E305K | Missense | 4 | NA | 0.01523 | rs149597385 |
| c.-219C>A | NA | UTR5 | 3 | 0 | 0 | Novel |