Table 2.
Functional effect and estimated risk (FASTSNP).
| SNP IDs | Alleles | Amino acid change | Possible effect | Risk score |
|---|---|---|---|---|
| rs41382345 | A/T | E139V | Conservative change, splicing regulation | 2-3 |
| rs28931579 | A/C | S314R | Conservative change, splicing regulation | 2-3 |
| rs28931578 | G/A | R152Q | Nonconservative change, splicing regulation | 3-4 |
| rs28931577 | G/A | A117T | Conservative change, splicing regulation | 2-3 |
| rs28931576 | A/G | T60A | Conservative change, splicing regulation | 2-3 |
| rs11542041 | C/A | R132S | Nonconservative change, splicing regulation | 3-4 |
| rs11542040 | C/A | P102T | Nonconservative change, splicing regulation | 3-4 |
| rs11542035 | G/A | R137H | Non conservative change | 3-4 |
| rs11542034 | A/G | E150G | Nonconservative change, splicing regulation | 3-4 |
| rs11542032 | G/A | E189K | Conservative change, splicing regulation | 2-3 |
| rs11542030 | A/G | Q205R | Conservative change, splicing regulation | 2-3 |
| rs11542027 | C/T | S215F | Conservative change | 2-3 |
| rs11083750 | C/A | P102Q | Nonconservative change, splicing regulation | 3-4 |
| rs429358 | T/C | L46P | Conservative change | 2-3 |
| rs7412 | T/C | C130R | Nonconservative change, splicing regulation | 3-4 |
| rs11542029 | C/T | R50C | NP | |
| rs769455 | C/G | P102R | NP | |
| rs769452 | C/T | R163C | NP | |
| rs121918399 | C/T | R43C | NP | |
| rs121918398 | A/G | R292H | NP | |
| rs121918397 | G/A | R163H | NP | |
| rs121918395 | C/T | R246C | NP | |
| rs121918394 | A/C | K164Q | NP | |
| rs121918393 | C/A | R154S | NP | |
| rs121918392 | G/A | E21K | NP |
NP: No Prediction; nsSNPs which show high risk score are highlighted as bold.