| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1559470315 | 0.732 | 0.320 | 3 | 41227287 | protein altering variant | CCACAAGCAG/T | delins | 26 | |||
| rs2277923 | 0.752 | 0.160 | 5 | 173235021 | synonymous variant | T/C | snv | 0.41 | 0.44 | 13 | |
| rs1563005360 | 0.807 | 0.120 | 7 | 128857103 | splice acceptor variant | ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG | delins | 11 | |||
| rs1057518422 | 0.851 | 0.240 | 6 | 149378954 | stop gained | C/T | snv | 7 | |||
| rs387906656 | 0.807 | 0.120 | 14 | 23396970 | missense variant | G/A | snv | 2.1E-05 | 6 | ||
| rs1057518920 | 0.925 | 0.080 | 6 | 7575386 | stop gained | C/A | snv | 5 | |||
| rs1830321 | 0.827 | 0.080 | 2 | 145067988 | intron variant | C/T | snv | 0.40 | 5 | ||
| rs200383755 | 0.925 | 0.080 | 20 | 62475466 | missense variant | G/C | snv | 3.4E-03 | 3.0E-03 | 3 | |
| rs1057518788 | 0.925 | 0.120 | 18 | 31331787 | stop gained | G/T | snv | 2 | |||
| rs7543130 | 0.925 | 0.080 | 1 | 99584229 | intron variant | C/A | snv | 0.39 | 2 | ||
| rs61755997 | 0.925 | 0.080 | 9 | 136515599 | missense variant | G/A | snv | 1.5E-04 | 2.0E-04 | 2 | |
| rs1569484234 | 1.000 | 0.040 | MT | 8750 | protein altering variant | -/AAA | delins | 1 | |||
| rs1569484208 | 1.000 | 0.040 | MT | 8418 | protein altering variant | -/ATA | delins | 1 | |||
| rs17290301 | 1.000 | 0.040 | 7 | 55173189 | intron variant | G/A | snv | 2.0E-02 | 1 | ||
| rs533525993 | 1.000 | 0.040 | 7 | 55165435 | splice region variant | C/T | snv | 2.4E-04 | 5.6E-05 | 1 | |
| rs41305803 | 1.000 | 0.040 | 20 | 62473493 | missense variant | G/A;C | snv | 0.41; 4.1E-06 | 0.43 | 1 | |
| rs3764962 | 1.000 | 0.040 | 18 | 22183050 | splice region variant | A/G | snv | 6.9E-02 | 0.20 | 1 | |
| rs1346272741 | 1.000 | 0.040 | 7 | 150999064 | missense variant | A/C | snv | 4.0E-06 | 1 | ||
| rs557319054 | 1.000 | 0.040 | 9 | 136502086 | missense variant | G/A;T | snv | 8.1E-06; 1.2E-05 | 1 | ||
| rs61751489 | 1.000 | 0.040 | 9 | 136496886 | missense variant | C/T | snv | 3.1E-02 | 1.8E-02 | 1 | |
| rs9930956 | 1.000 | 0.040 | 16 | 2035294 | intron variant | C/G;T | snv | 1 | |||
| rs12857479 | 1.000 | 0.040 | 13 | 30956872 | splice acceptor variant | G/A | snv | 0.35 | 0.28 | 1 | |
| rs1155705 | 1.000 | 0.040 | 3 | 30644922 | splice region variant | A/G;T | snv | 0.37 | 1 |