| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs397517921 | 5 | 156594936 | frameshift variant | A/- | delins | 2 | |||||
| rs116840777 | 3 | 8745788 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 1 | |||
| rs140403642 | 4 | 183682810 | stop gained | C/T | snv | 8.0E-06 | 4.2E-05 | 1 | |||
| rs1451079560 | 2 | 71481916 | missense variant | A/G | snv | 1.4E-05 | 1 | ||||
| rs397508821 | 7 | 117504294 | missense variant | T/C | snv | 4.0E-06 | 1 | ||||
| rs72677232 | 2 | 178618210 | missense variant | C/T | snv | 1.6E-03 | 2.0E-03 | 1 | |||
| rs747685252 | 9 | 116698433 | frameshift variant | G/- | del | 2.4E-05 | 7.0E-06 | 1 | |||
| rs758454952 | 11 | 65131290 | missense variant | T/C | snv | 4.0E-06 | 1 | ||||
| rs774296358 | 2 | 178539128 | missense variant | C/T | snv | 4.8E-05 | 9.8E-05 | 1 | |||
| rs779139238 | 15 | 42408301 | missense variant | G/T | snv | 8.0E-06 | 1 | ||||
| rs28937900 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 37 | ||
| rs104894681 | 0.776 | 0.200 | 19 | 46756793 | missense variant | C/T | snv | 9.0E-06 | 10 | ||
| rs72546668 | 0.807 | 0.200 | 3 | 8745644 | missense variant | C/A;T | snv | 4.0E-06; 2.6E-03 | 8 | ||
| rs116840805 | 0.827 | 0.160 | 3 | 8745725 | missense variant | C/T | snv | 6 | |||
| rs543163491 | 0.827 | 0.160 | 19 | 46755995 | missense variant | A/G;T | snv | 8.2E-05; 6.8E-06 | 6 | ||
| rs116840778 | 0.882 | 0.200 | 3 | 8733956 | missense variant | G/A;C | snv | 7 | |||
| rs760768093 | 0.882 | 0.160 | 2 | 178533255 | frameshift variant | C/- | delins | 2.4E-05 | 1.4E-05 | 7 | |
| rs143570936 | 0.925 | 0.200 | 17 | 50169246 | missense variant | G/A | snv | 1.1E-04 | 1.8E-04 | 5 | |
| rs869025337 | 0.925 | 0.120 | 6 | 105124593 | missense variant | G/A;C | snv | 4.0E-06 | 5 | ||
| rs111033570 | 0.925 | 0.160 | 9 | 116699201 | missense variant | G/A | snv | 8.0E-06 | 4 | ||
| rs199806879 | 0.925 | 0.120 | 15 | 42408227 | missense variant | C/T | snv | 4.4E-05 | 3.5E-05 | 3 | |
| rs757082154 | 1.000 | 0.120 | 2 | 178527491 | stop gained | G/A | snv | 1.2E-05 | 9 | ||
| rs58327533 | 1.000 | 0.120 | 1 | 156114991 | missense variant | C/G;T | snv | 4 | |||
| rs104894422 | 1.000 | 0.200 | 13 | 23324513 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
| rs116840776 | 1.000 | 0.040 | 3 | 8745627 | missense variant | C/G | snv | 1.4E-03 | 1.6E-03 | 2 |