| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
| rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
| rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
| rs1128503 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 64 | |
| rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 46 | ||
| rs5742909 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 40 | ||
| rs61747728 | 0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 | 20 | |
| rs747126003 | 0.689 | 0.400 | 7 | 22728790 | missense variant | A/G;T | snv | 4.0E-06 | 18 | ||
| rs74315342 | 0.763 | 0.120 | 1 | 179561327 | missense variant | C/T | snv | 6.0E-04 | 5.3E-04 | 10 | |
| rs200482683 | 0.827 | 0.120 | 1 | 179552608 | missense variant | C/T | snv | 1.1E-04 | 1.1E-04 | 6 | |
| rs530318579 | 0.807 | 0.080 | 1 | 179559710 | missense variant | C/T | snv | 1.4E-05 | 6 | ||
| rs869025495 | 0.851 | 0.080 | 1 | 179564715 | missense variant | G/A | snv | 6 | |||
| rs5333 | 0.827 | 0.280 | 4 | 147539885 | synonymous variant | T/C | snv | 0.28 | 0.34 | 5 | |
| rs74315343 | 0.851 | 0.080 | 1 | 179561328 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 5 | |
| rs1462028977 | 0.851 | 0.080 | 1 | 179575654 | stop gained | G/A | snv | 4.3E-06 | 7.0E-06 | 4 | |
| rs748812981 | 0.851 | 0.080 | 1 | 179557051 | missense variant | C/A | snv | 8.0E-06; 4.0E-06 | 2.8E-05 | 4 | |
| rs1272948499 | 0.925 | 0.080 | 1 | 179575709 | frameshift variant | C/- | delins | 1.4E-05 | 3 | ||
| rs749740335 | 0.925 | 0.080 | 1 | 179552620 | frameshift variant | TT/- | delins | 6.8E-05 | 9.1E-05 | 3 | |
| rs1553312833 | 0.925 | 0.080 | 1 | 179552602 | splice donor variant | C/T | snv | 2 | |||
| rs775006954 | 0.925 | 0.080 | 1 | 179554491 | missense variant | A/T | snv | 1.6E-05 | 1.0E-04 | 2 | |
| rs1057516395 | 0.925 | 0.080 | 1 | 179564699 | frameshift variant | G/- | del | 2 | |||
| rs1057516414 | 0.925 | 0.080 | 1 | 179557080 | stop gained | G/A;T | snv | 8.0E-06 | 2 | ||
| rs1057516680 | 0.925 | 0.080 | 1 | 179575862 | start lost | C/A;T | snv | 2 | |||
| rs1057516747 | 0.925 | 0.080 | 1 | 179575722 | frameshift variant | -/AGCCC | delins | 7.0E-06 | 2 |