SNP No. | SNP and Positionb | Position Relative to Transcription Start Site | Location | Effect | N | Allelic Frequency |
---|---|---|---|---|---|---|
% | ||||||
1 | -20296A>G | -1379 | Promoter | 92 | 13 | |
2 | -19855C>T | -938 | Promoter | 92 | 0.5 | |
3 | -19605A>G | -688 | Promoter | 92 | 0.5 | |
4 | -19031C>T | -114 | Promoter | 92 | 1.6 | |
5 | -18631C>T | +286 | 5′UTR | 92 | 2.2 | |
6 | 34G>A | Exon 2 | V12M | 275 | 23 | |
7 | 238A>G | Intron 2 | 92 | 25 | ||
8 | 7430A>G | Intron 3 | 92 | 9.8 | ||
9 | 8191C>T | Exon 4 | Q126Stop | 375 | 1.9 | |
10 | 8825C>A | Exon 5 | Q141K | 275 | 28 | |
11 | 21850C>T | Exon 7 | P269S | 674 | 0.2 | |
12 | 26297G>A | Exon 9 | 92 | 1.1 | ||
13 | 38485A>G | Intron 11 | 92 | 24 | ||
14 | 40086insA | Intron 12 | 92 | 0.5 | ||
15 | 40110G>T | Intron 12 | 92 | 22 | ||
16 | 42288C>T | Intron 13 | 92 | 67.4 | ||
17 | 42313T>G | Intron 13 | 92 | 2.2 | ||
18 | 44072C>T | Intron 13 | 92 | 23.4 | ||
19 | 44997A>G | Intron 14 | 92 | 49.5 | ||
20 | 45235C>T |
| Intron 15 |
| 92 | 20.1 |