| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1172063879 | 1.000 | 0.040 | 17 | 37259427 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
| rs371010069 | 1.000 | 0.040 | 17 | 63486654 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 1 | |
| rs727504323 | 1.000 | 0.040 | 15 | 34792105 | missense variant | G/C | snv | 1 | |||
| rs200889953 | 1.000 | 0.040 | 15 | 84839087 | stop gained | C/T | snv | 1 | |||
| rs745688425 | 1.000 | 0.040 | 15 | 84858461 | frameshift variant | C/- | delins | 1.1E-05 | 7.0E-06 | 1 | |
| rs267606753 | 1.000 | 0.040 | 11 | 19188253 | missense variant | T/C | snv | 1 | |||
| rs786204291 | 1.000 | 0.040 | 18 | 31522152 | missense variant | A/C;G | snv | 4.0E-06; 1.6E-05 | 1 | ||
| rs113188481 | 1.000 | 0.040 | 2 | 105363443 | missense variant | C/T | snv | 3.5E-03 | 1.4E-02 | 1 | |
| rs570903247 | 1.000 | 0.040 | 2 | 105363414 | missense variant | C/A;T | snv | 1.1E-04; 2.4E-05 | 1 | ||
| rs727504674 | 1.000 | 0.040 | 2 | 105363461 | missense variant | G/A | snv | 6.3E-05 | 1.3E-04 | 1 | |
| rs2303510 | 1.000 | 0.040 | 18 | 36744128 | missense variant | G/A | snv | 0.34 | 0.35 | 1 | |
| rs516514 | 1.000 | 0.040 | 18 | 36681085 | intron variant | C/T | snv | 0.49 | 1 | ||
| rs281860503 | 1.000 | 0.040 | 6 | 31271187 | missense variant | G/A;C;T | snv | 1 | |||
| rs281860563 | 1.000 | 0.040 | 6 | 31270363 | stop gained | G/A;T | snv | 1 | |||
| rs45580333 | 1.000 | 0.040 | 6 | 31271262 | missense variant | C/A;G;T | snv | 4.0E-06 | 1.5E-05 | 1 | |
| rs397515871 | 1.000 | 0.040 | X | 101407834 | missense variant | A/T | snv | 1 | |||
| rs1326977511 | 1.000 | 0.040 | 20 | 44116369 | missense variant | G/A;C | snv | 3.6E-05; 7.2E-06 | 1 | ||
| rs140740776 | 1.000 | 0.040 | 20 | 44116162 | missense variant | C/G;T | snv | 3.9E-05; 9.1E-03 | 1 | ||
| rs397516736 | 1.000 | 0.040 | X | 120456651 | stop gained | A/C;G;T | snv | 1.9E-05 | 1 | ||
| rs397516738 | 1.000 | 0.040 | X | 120455563 | frameshift variant | A/- | del | 1 | |||
| rs397516739 | 1.000 | 0.040 | X | 120455536 | frameshift variant | -/T | delins | 5.5E-06 | 1 | ||
| rs397516752 | 1.000 | 0.040 | X | 120442663 | splice acceptor variant | C/G | snv | 1 | |||
| rs201786090 | 1.000 | 0.040 | 10 | 86679433 | missense variant | G/A | snv | 3.2E-05 | 2.8E-05 | 1 | |
| rs727504399 | 1.000 | 0.040 | 15 | 34794733 | missense variant | C/T | snv | 1 | |||
| rs730880404 | 1.000 | 0.040 | 15 | 34791136 | missense variant | G/A | snv | 1 |