| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs767181086 | 0.827 | 0.240 | 1 | 183220922 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 11 | ||
| rs1553281318 | 0.882 | 0.120 | 1 | 226986536 | frameshift variant | -/A | delins | 7 | |||
| rs886041761 | 0.925 | 0.200 | 1 | 110603902 | missense variant | C/T | snv | 6 | |||
| rs587777004 | 1.000 | 0.080 | 1 | 244842055 | missense variant | A/C;G | snv | 4.0E-06 | 3 | ||
| rs771578775 | 1.000 | 0.080 | 1 | 226982996 | stop gained | C/T | snv | 4.5E-05 | 5.6E-05 | 3 | |
| rs672601370 | 0.790 | 0.160 | 2 | 240775863 | missense variant | G/A | snv | 13 | |||
| rs672601362 | 0.851 | 0.080 | 2 | 240789246 | missense variant | G/A | snv | 7 | |||
| rs1320457487 | 1.000 | 0.120 | 2 | 44301057 | missense variant | G/A | snv | 8.0E-06 | 3 | ||
| rs1424215334 | 1.000 | 0.120 | 2 | 44280805 | missense variant | A/G | snv | 2.1E-05 | 3 | ||
| rs200248046 | 1.000 | 0.120 | 2 | 44299998 | missense variant | G/A;C | snv | 4.0E-06; 8.0E-06 | 3 | ||
| rs143319805 | 0.807 | 0.320 | 3 | 193643378 | missense variant | A/G | snv | 6.2E-04 | 5.7E-04 | 12 | |
| rs1553878395 | 0.925 | 0.080 | 4 | 25127263 | splice acceptor variant | AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- | delins | 5 | |||
| rs119456965 | 1.000 | 0.080 | 5 | 139050960 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 3 | |
| rs181109321 | 0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 | 17 | ||
| rs58982919 | 0.790 | 0.080 | 8 | 24956223 | missense variant | T/C | snv | 10 | |||
| rs267606695 | 1.000 | 0.160 | 8 | 60266044 | missense variant | A/C;G | snv | 5 | |||
| rs58332872 | 0.882 | 0.080 | 8 | 24956248 | missense variant | C/T | snv | 5 | |||
| rs104894107 | 0.882 | 0.160 | 9 | 69064942 | missense variant | G/C;T | snv | 3.6E-05; 2.8E-05 | 6 | ||
| rs730882209 | 0.925 | 0.080 | 9 | 132326375 | frameshift variant | -/C | delins | 6 | |||
| rs1269252748 | 9 | 2641436 | missense variant | C/T | snv | 4 | |||||
| rs1335702493 | 0.925 | 0.200 | 9 | 32973507 | stop gained | C/A;T | snv | 4 | |||
| rs267607044 | 1.000 | 0.080 | 9 | 132327718 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 3 | |
| rs770684782 | 9 | 132288268 | stop gained | G/A | snv | 4.0E-06 | 3 | ||||
| rs1057519389 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 46 | |||
| rs727502818 | 0.790 | 0.160 | 11 | 17772053 | missense variant | G/A | snv | 26 |