| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1553631770 | 1.000 | 3 | 41233398 | missense variant | A/T | snv | 4 | ||||
| rs1553631783 | 3 | 41233416 | frameshift variant | G/- | delins | 2 | |||||
| rs1553631860 | 1.000 | 3 | 41233763 | stop gained | C/T | snv | 1 | ||||
| rs1553631896 | 1.000 | 0.080 | 3 | 41233836 | frameshift variant | -/A | delins | 1 | |||
| rs1553632357 | 0.882 | 0.120 | 3 | 41236421 | stop gained | G/T | snv | 5 | |||
| rs1553632361 | 3 | 41236468 | frameshift variant | AG/- | delins | 1 | |||||
| rs1559468403 | 1.000 | 3 | 41225208 | splice donor variant | G/C | snv | 1 | ||||
| rs1559470315 | 0.732 | 0.320 | 3 | 41227287 | protein altering variant | CCACAAGCAG/T | delins | 26 | |||
| rs1559474364 | 1.000 | 3 | 41233640 | stop gained | A/T | snv | 1 | ||||
| rs1559474966 | 1.000 | 3 | 41234202 | stop gained | C/T | snv | 1 | ||||
| rs1559477241 | 1.000 | 3 | 41236709 | missense variant | G/C | snv | 1 | ||||
| rs28931588 | 0.701 | 0.200 | 3 | 41224606 | missense variant | G/A;C;T | snv | 14 | |||
| rs28931589 | 0.695 | 0.240 | 3 | 41224613 | missense variant | G/A;C;T | snv | 13 | |||
| rs376393123 | 1.000 | 3 | 41225850 | stop gained | C/G;T | snv | 1 | ||||
| rs397514554 | 1.000 | 3 | 41234157 | stop gained | C/T | snv | 1 | ||||
| rs398122907 | 1.000 | 3 | 41233611 | frameshift variant | TTCT/- | delins | 1 | ||||
| rs587776850 | 1.000 | 0.080 | 3 | 41224643 | inframe deletion | TCT/- | delins | 1 | |||
| rs587777412 | 1.000 | 3 | 41225542 | frameshift variant | -/A | delins | 1 | ||||
| rs748294403 | 1.000 | 3 | 41236614 | stop gained | C/A;T | snv | 1 | ||||
| rs748653573 | 0.882 | 0.080 | 3 | 41238067 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 2 | ||
| rs77064436 | 1.000 | 0.040 | 3 | 41224577 | missense variant | T/C;G | snv | 1 | |||
| rs775104326 | 0.776 | 0.160 | 3 | 41224995 | stop gained | C/A;T | snv | 4.0E-06 | 10 | ||
| rs778624338 | 1.000 | 0.080 | 3 | 41227270 | stop gained | C/A;T | snv | 2.0E-05 | 7.0E-06 | 2 | |
| rs797044875 | 1.000 | 3 | 41235763 | missense variant | G/A | snv | 3 | ||||
| rs863224864 | 1.000 | 3 | 41233614 | missense variant | T/G | snv | 1 |