| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs786204010 | 1.000 | 1 | 11801333 | inframe insertion | -/TCACCTGCTGGGTGCCAGGTCACGTCTATGTAGAGGGGG | delins | 1 | ||||
| rs746353274 | 1.000 | 1 | 11796341 | inframe deletion | TTC/- | delins | 8.0E-06 | 7.0E-06 | 1 | ||
| rs786204016 | 1.000 | 1 | 11796307 | inframe deletion | TGA/- | delins | 1 | ||||
| rs768434408 | 1.000 | 1 | 11790682 | stop lost | A/G | snv | 4.0E-06 | 7.0E-06 | 1 | ||
| rs140241283 | 0.882 | 0.120 | 1 | 11796249 | start lost | A/G;T | snv | 4.0E-06; 4.0E-06 | 3 | ||
| rs765586205 | 1.000 | 1 | 11793907 | splice region variant | C/T | snv | 4.9E-05 | 7.0E-06 | 1 | ||
| rs780014899 | 1.000 | 1 | 11794540 | splice acceptor variant | T/- | del | 8.0E-06 | 1 | |||
| rs1057519362 | 1.000 | 1 | 11796324 | frameshift variant | C/- | delins | 1 | ||||
| rs1057519363 | 1.000 | 1 | 11792317 | frameshift variant | C/- | del | 1 | ||||
| rs1557761665 | 1.000 | 1 | 11794437 | frameshift variant | -/C | delins | 1 | ||||
| rs4846049 | 0.776 | 0.360 | 1 | 11790308 | 3 prime UTR variant | T/A;G | snv | 11 | |||
| rs4846048 | 0.752 | 0.280 | 1 | 11786195 | 3 prime UTR variant | G/A | snv | 0.67 | 10 | ||
| rs55763075 | 0.827 | 0.120 | 1 | 11790377 | 3 prime UTR variant | C/T | snv | 2.1E-05 | 6 | ||
| rs114673809 | 0.882 | 0.080 | 1 | 11787703 | 3 prime UTR variant | G/A | snv | 5.0E-03 | 3 | ||
| rs35134728 | 0.882 | 0.120 | 1 | 11787277 | 3 prime UTR variant | -/AGA | delins | 3 | |||
| rs3737966 | 0.882 | 0.120 | 1 | 11787702 | 3 prime UTR variant | C/T | snv | 0.55 | 3 | ||
| rs142884651 | 1.000 | 0.080 | 1 | 11786327 | 3 prime UTR variant | G/A | snv | 1 | |||
| rs1057519359 | 1.000 | 1 | 11802880 | splice donor variant | C/T | snv | 1 | ||||
| rs747846362 | 1.000 | 1 | 11791206 | splice donor variant | C/A | snv | 4.0E-06 | 1 | |||
| rs749765738 | 1.000 | 1 | 11792276 | splice donor variant | A/C;G | snv | 4.0E-06 | 1 | |||
| rs786204020 | 1.000 | 1 | 11796205 | splice donor variant | C/A;T | snv | 1 | ||||
| rs786204027 | 1.000 | 1 | 11793905 | splice donor variant | A/C;G | snv | 4.1E-06 | 1 | |||
| rs3753584 | 0.827 | 0.080 | 1 | 11804529 | 5 prime UTR variant | T/C | snv | 0.14 | 10 | ||
| rs13306560 | 1.000 | 0.040 | 1 | 11806126 | 5 prime UTR variant | C/T | snv | 3.7E-02 | 3 | ||
| rs13306561 | 1 | 11805747 | 5 prime UTR variant | A/G | snv | 0.18 | 2 |