| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs150766139 | 0.742 | 0.320 | 16 | 2046238 | stop gained | G/A | snv | 1.4E-03 | 1.4E-03 | 13 | |
| rs3087468 | 16 | 2040233 | missense variant | C/A | snv | 3 | |||||
| rs759156239 | 0.882 | 0.080 | 16 | 2044727 | missense variant | A/C;G | snv | 4.1E-06; 4.1E-06 | 3 | ||
| rs2233518 | 0.882 | 0.080 | 16 | 2046383 | intron variant | G/A | snv | 2.7E-03 | 1.1E-02 | 3 | |
| rs2516739 | 16 | 2047157 | non coding transcript exon variant | G/A | snv | 0.30 | 2 | ||||
| rs146347092 | 1.000 | 0.040 | 16 | 2040004 | stop gained | G/A | snv | 1.8E-04 | 2.5E-04 | 1 | |
| rs372946560 | 1.000 | 16 | 2043566 | splice donor variant | C/T | snv | 4.1E-06 | 1.4E-05 | 1 | ||
| rs137854117 | 1.000 | 0.120 | 16 | 2048750 | splice donor variant | AGAG/-;AG | delins | 1 | |||
| rs45512692 | 1.000 | 0.120 | 16 | 2048649 | stop gained | A/T | snv | 4.0E-06 | 1 | ||
| rs137854360 | 1.000 | 0.120 | 16 | 2048747 | frameshift variant | CTGA/- | delins | 1 | |||
| rs397515020 | 1.000 | 0.120 | 16 | 2048658 | frameshift variant | T/-;TT | delins | 1 |