| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs372949028 | 0.827 | 0.240 | 22 | 20061684 | splice donor variant | G/A;C | snv | 7.1E-05 | 5.6E-05 | 13 | |
| rs1555582065 | 0.827 | 0.160 | 17 | 44212851 | missense variant | C/T | snv | 13 | |||
| rs1553878395 | 0.925 | 0.080 | 4 | 25127263 | splice acceptor variant | AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- | delins | 5 | |||
| rs397514513 | 0.882 | 0.080 | 4 | 107945426 | missense variant | A/T | snv | 4 | |||
| rs769235753 | 0.925 | 0.120 | 6 | 73644582 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 4 | |
| rs796053356 | 0.882 | 0.160 | 9 | 127663344 | missense variant | G/A | snv | 4 | |||
| rs730882241 | 1.000 | 1 | 230995876 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 3 | ||
| rs200133991 | 0.925 | 0.080 | 19 | 29708290 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 3 | |
| rs1554967681 | 0.925 | 0.040 | 11 | 65525631 | stop gained | C/T | snv | 3 | |||
| rs1554969925 | 0.925 | 0.040 | 11 | 65535999 | missense variant | A/G | snv | 3 | |||
| rs1554970375 | 0.925 | 0.040 | 11 | 65537051 | stop gained | C/T | snv | 3 | |||
| rs942522644 | 0.925 | 0.040 | 11 | 65525982 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 3 | |
| rs1424291552 | 1.000 | 19 | 29708423 | missense variant | C/G;T | snv | 4.0E-06 | 2 | |||
| rs1554967761 | 1.000 | 0.040 | 11 | 65525924 | stop gained | G/T | snv | 2 | |||
| rs1565825132 | 1.000 | 0.160 | 12 | 64498008 | stop gained | G/T | snv | 2 | |||
| rs1057518915 | 20 | 3908191 | missense variant | G/A | snv | 1 | |||||
| rs753376100 | 20 | 3910664 | missense variant | C/T | snv | 1.6E-05 | 1 |