| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1555167139 | 12 | 47985937 | missense variant | C/T | snv | 1 | |||||
| rs1565681966 | 1.000 | 0.080 | 12 | 47985726 | splice donor variant | A/C | snv | 1 | |||
| rs121912878 | 1.000 | 0.080 | 12 | 47978389 | missense variant | C/T | snv | 1 | |||
| rs121912899 | 1.000 | 0.080 | 12 | 47985771 | missense variant | C/A | snv | 1 | |||
| rs121912888 | 1.000 | 0.080 | 12 | 47985946 | missense variant | C/T | snv | 1 | |||
| rs868417981 | 1.000 | 0.080 | 12 | 47986343 | missense variant | C/A;T | snv | 1 | |||
| rs1555166729 | 1.000 | 0.080 | 12 | 47983699 | missense variant | C/T | snv | 1 | |||
| rs1555165335 | 1.000 | 0.080 | 12 | 47978042 | inframe deletion | CACGGGGCCAGGAGGACC/- | delins | 1 | |||
| rs672601354 | 1.000 | 0.160 | 12 | 47976889 | frameshift variant | -/AG | ins | 1 | |||
| rs672601355 | 1.000 | 0.160 | 12 | 47987632 | inframe insertion | -/ACCCAGGAG | delins | 8.1E-06 | 1 | ||
| rs121912877 | 1.000 | 0.240 | 12 | 47993825 | missense variant | C/T | snv | 1 | |||
| rs1565686170 | 1.000 | 0.240 | 12 | 47989227 | splice donor variant | C/G | snv | 1 | |||
| rs587776847 | 1.000 | 0.240 | 12 | 47987268 | splice donor variant | C/- | del | 1 | |||
| rs1555167847 | 1.000 | 12 | 47989768 | missense variant | C/A | snv | 1 | ||||
| rs1555164672 | 1.000 | 12 | 47975324 | stop gained | C/T | snv | 1 | ||||
| rs121912868 | 1.000 | 0.080 | 12 | 47977607 | missense variant | C/T | snv | 1 | |||
| rs121912864 | 1.000 | 0.080 | 12 | 47977373 | missense variant | C/T | snv | 1 | |||
| rs121912881 | 1.000 | 0.080 | 12 | 47986388 | missense variant | C/A | snv | 1 | |||
| rs121912871 | 1.000 | 0.080 | 12 | 47989769 | missense variant | C/T | snv | 1 | |||
| rs121912895 | 1.000 | 0.080 | 12 | 47978320 | missense variant | T/C | snv | 1 | |||
| rs121912890 | 1.000 | 0.080 | 12 | 47974092 | stop gained | G/T | snv | 1 | |||
| rs1565664375 | 1.000 | 0.080 | 12 | 47973534 | frameshift variant | C/- | delins | 1 | |||
| rs121912897 | 1.000 | 0.080 | 12 | 48000019 | stop gained | G/A;T | snv | 3.6E-05 | 1 | ||
| rs121912898 | 1.000 | 0.080 | 12 | 48000041 | missense variant | C/T | snv | 1 | |||
| rs121912872 | 1.000 | 0.080 | 12 | 47994440 | missense variant | C/T | snv | 1 |