Table 3.
Record of All Functionally Significant Single Nucleotide Polymorphisms as Identified by FASTSNP
| S. no. | SNP ID | Noncoding region | Level of risk | Possible functional effects |
|---|---|---|---|---|
| 1 | rs67617070 | Frameshift | Low-medium (2–3) | Splicing regulation |
| 2 | rs67420827 | Frameshift | Low-medium (2–3) | Splicing regulation |
| 3 | rs66493360 | Frameshift | Low-medium (2–3) | Splicing regulation |
| 4 | rs56073151 | cds-synon | Low-medium (2–3) | Sense/synonymous; splicing regulation |
| 5 | rs55880327 | cds-synon | Low-medium (2–3) | Sense/synonymous; splicing regulation |
| 6 | rs55699040 | Intron | Low-medium (2–3) | Missense (conservative) |
| 7 | rs11171743 | Intron | Low-medium (2–3) | Missense (conservative) |
| 8 | rs2271189 | Intron | Low-medium (2–3) | Sense/synonymous; splicing regulation |
| 9 | rs2229046 | cds-synon | Low-medium (2–3) | Sense/synonymous; splicing regulation |
| 10 | rs66581925 | Intron | Medium-high (3–4) | Splicing site |
| 11 | rs2271194 | Intron | Medium-high (3–4) | Splicing site |
| 12 | rs2271188 | Intron | Medium-high (3–4) | Missense (nonconservative); splicing regulation |
| 13 | rs812826 | Intron | Medium-high (3–4) | Splicing site |
| 14 | rs773123 | Intron | Medium-high (3–4) | Missense (nonconservative); splicing regulation |