| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs116128702 | 1.000 | 5 | 13923369 | stop gained | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 4 | |||
| rs746242380 | 1.000 | 0.080 | 17 | 44902646 | frameshift variant | AGAG/-;AG;AGAGAG | delins | 1.6E-05 | 2.8E-05 | 4 | |
| rs1060501460 | 1.000 | 0.160 | 5 | 13776447 | frameshift variant | A/- | delins | 1.2E-05 | 2 | ||
| rs1060501464 | 1.000 | 0.160 | 5 | 13735167 | stop gained | G/A | snv | 4.0E-06 | 2 | ||
| rs118204041 | 1.000 | 0.120 | 6 | 116617083 | stop gained | C/T | snv | 2.0E-05 | 2 | ||
| rs118204042 | 1.000 | 0.120 | 6 | 116616948 | stop gained | C/T | snv | 8.0E-06 | 1.4E-05 | 2 | |
| rs118204043 | 1.000 | 0.120 | 6 | 116628175 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 | 2 | |
| rs121908854 | 1.000 | 7 | 21748602 | stop gained | C/A;G;T | snv | 1.2E-03; 4.7E-06 | 2 | |||
| rs121908855 | 1.000 | 0.160 | 7 | 21880869 | stop gained | C/G | snv | 6.1E-05 | 2.8E-05 | 2 | |
| rs1273352530 | 1.000 | 0.160 | 5 | 13830621 | stop gained | G/A | snv | 2 | |||
| rs1349668884 | 1.000 | 0.160 | 19 | 55159416 | frameshift variant | -/T | delins | 2 | |||
| rs141945265 | 1.000 | 8 | 132632819 | stop gained | G/A;C | snv | 1.2E-05; 1.5E-03 | 2 | |||
| rs1554294478 | 1.000 | 0.160 | 7 | 21901225 | stop lost | GCTCTGCTTCTAGAAGCGTAAGGTAACACTGGCATTCCTCTAGCCTCTGCTGGAGTG/- | delins | 2 | |||
| rs1569163423 | 1.000 | 0.160 | X | 13767272 | frameshift variant | -/T | delins | 2 | |||
| rs1569164733 | 1.000 | 0.160 | X | 13768093 | stop gained | G/T | snv | 2 | |||
| rs1569164829 | 1.000 | 0.160 | X | 13768111 | stop gained | G/T | snv | 2 | |||
| rs200321595 | 1.000 | 8 | 132632957 | missense variant | C/G | snv | 1.6E-04 | 1.0E-04 | 2 | ||
| rs200382776 | 1.000 | 0.160 | 21 | 42477286 | splice region variant | C/T | snv | 2.6E-04 | 6.6E-05 | 2 | |
| rs200488444 | 1.000 | 0.160 | 9 | 34490011 | splice acceptor variant | G/C | snv | 4.1E-04 | 4.5E-04 | 2 | |
| rs200669099 | 1.000 | 0.160 | 9 | 34514468 | stop gained | G/A | snv | 3.6E-05 | 5.6E-05 | 2 | |
| rs200901816 | 1.000 | 0.160 | 5 | 13701289 | stop gained | G/A | snv | 6.0E-05 | 6.3E-05 | 2 | |
| rs201133219 | 1.000 | 19 | 48297995 | splice region variant | C/T | snv | 8.0E-05 | 7.0E-05 | 2 | ||
| rs267607225 | 1.000 | 0.120 | 16 | 84159744 | stop gained | C/T | snv | 1.6E-05 | 2 | ||
| rs368260932 | 1.000 | 0.160 | 7 | 21749702 | stop gained | C/T | snv | 4.4E-05 | 7.7E-05 | 2 | |
| rs370706991 | 1.000 | 0.120 | 17 | 80089763 | splice acceptor variant | G/A;T | snv | 4.0E-06; 3.6E-05 | 2 |