| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs730882249 | 0.882 | 0.120 | 7 | 100105981 | stop gained | C/T | snv | 4.0E-06 | 6 | ||
| rs146262009 | 1.000 | 0.080 | 7 | 100106278 | stop gained | C/G;T | snv | 4.0E-06; 4.4E-05 | 1 | ||
| rs760907496 | 1.000 | 0.080 | 7 | 100106745 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
| rs1193888919 | 1.000 | 1 | 100107513 | frameshift variant | -/T | delins | 4.0E-06 | 1 | |||
| rs879253807 | 1.000 | 0.080 | 13 | 100111840 | splice acceptor variant | G/A | snv | 1 | |||
| rs141371306 | 1.000 | 0.080 | 13 | 100111886 | missense variant | C/T | snv | 2.0E-05 | 5.6E-05 | 1 | |
| rs972937270 | 1.000 | 0.080 | 13 | 100111889 | splice donor variant | G/C | snv | 8.0E-06 | 1.4E-05 | 1 | |
| rs879253801 | 1.000 | 0.080 | 13 | 100112045 | missense variant | A/G | snv | 1 | |||
| rs374993554 | 0.925 | 7 | 100113899 | missense variant | A/G;T | snv | 3.2E-05 | 3 | |||
| rs727503778 | 0.925 | 0.080 | 7 | 100114074 | missense variant | G/A | snv | 2 | |||
| rs876661307 | 1.000 | 1 | 100123231 | missense variant | A/G | snv | 1 | ||||
| rs1564123602 | 1.000 | 0.080 | 9 | 100126450 | frameshift variant | -/CAGA | delins | 1 | |||
| rs749116256 | 1.000 | 0.160 | 15 | 100132006 | splice donor variant | C/T | snv | 3.2E-05 | 2.8E-05 | 1 | |
| rs794727701 | 1.000 | 0.120 | 4 | 1001467 | splice acceptor variant | G/A;C | snv | 4.0E-06 | 1 | ||
| rs875989946 | 1.000 | 0.120 | 4 | 1001497 | missense variant | T/C | snv | 1 | |||
| rs776098539 | 1.000 | 0.120 | 4 | 1001510 | missense variant | C/G;T | snv | 3.6E-05 | 3.5E-05 | 1 | |
| rs1553917044 | 1.000 | 0.120 | 4 | 1001514 | frameshift variant | -/A | delins | 1 | |||
| rs876657413 | 1.000 | 10 | 100154922 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | ||
| rs202247814 | 1.000 | 0.080 | 13 | 100155090 | missense variant | G/A | snv | 1 | |||
| rs1293215555 | 1.000 | 0.120 | 4 | 1001564 | splice donor variant | G/A | snv | 7.0E-06 | 1 | ||
| rs746286209 | 1.000 | 0.080 | 13 | 100157285 | splice acceptor variant | A/C | snv | 8.0E-06 | 1 | ||
| rs796052019 | 0.882 | 0.160 | 13 | 100157297 | missense variant | G/A;T | snv | 4.0E-06 | 1 | ||
| rs879253808 | 1.000 | 0.080 | 13 | 100157303 | missense variant | G/T | snv | 1 | |||
| rs1555361758 | 1.000 | 0.080 | 13 | 100157312 | frameshift variant | C/- | del | 1 | |||
| rs760387660 | 1.000 | 0.080 | 13 | 100157339 | stop gained | T/A | snv | 4.0E-06 | 1 |