| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
| rs1800470 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 107 | ||
| rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
| rs1544410 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 78 | |||
| rs61754966 | 0.701 | 0.280 | 8 | 89978293 | missense variant | T/C;G | snv | 1.2E-03 | 23 | ||
| rs1553284997 | 0.790 | 0.400 | 1 | 92833544 | splice acceptor variant | G/C | snv | 17 | |||
| rs113993993 | 0.851 | 0.040 | 7 | 66994210 | splice donor variant | A/C;G | snv | 4.0E-06; 3.9E-03 | 9 | ||
| rs199422294 | 0.827 | 0.160 | 5 | 1280216 | missense variant | C/T | snv | 5 | |||
| rs730881864 | 0.882 | 0.160 | 8 | 89943297 | stop gained | G/A;C | snv | 2.4E-05; 4.0E-05 | 4 | ||
| rs767215758 | 0.882 | 0.160 | 8 | 89958819 | stop gained | G/A | snv | 8.0E-06 | 4 | ||
| rs199422295 | 0.882 | 0.120 | 5 | 1279376 | missense variant | C/T | snv | 3 | |||
| rs34094720 | 0.882 | 0.040 | 5 | 1293652 | missense variant | G/A;T | snv | 3.3E-03; 6.0E-06 | 3 | ||
| rs1353528671 | 1.000 | 0.040 | 10 | 88990905 | missense variant | T/C | snv | 1 | |||
| rs193302875 | 1.000 | 0.040 | 10 | 70598558 | missense variant | C/A | snv | 1 | |||
| rs483352771 | 1.000 | 0.040 | 5 | 1272213 | missense variant | G/A;C;T | snv | 4.0E-06; 1.2E-05 | 1 | ||
| rs121918662 | 0.882 | 0.120 | 5 | 1279341 | missense variant | C/T | snv | 7.0E-06 | 3 | ||
| rs587782545 | 0.882 | 0.160 | 8 | 89947835 | stop gained | T/A | snv | 3.9E-05 | 2.1E-05 | 4 | |
| rs113993992 | 0.882 | 0.040 | 7 | 66994211 | splice donor variant | C/G | snv | 4.0E-06 | 2.1E-05 | 3 | |
| rs149566858 | 1.000 | 0.040 | 5 | 1278750 | missense variant | G/A | snv | 5.2E-05 | 6.3E-05 | 1 | |
| rs121918661 | 0.882 | 0.120 | 5 | 1294282 | missense variant | C/T | snv | 3.2E-04 | 1.8E-04 | 3 | |
| rs36084323 | 0.807 | 0.280 | 2 | 241859444 | upstream gene variant | C/T | snv | 5.4E-02 | 8 | ||
| rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
| rs10204525 | 0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 | 20 | ||
| rs11209032 | 0.752 | 0.400 | 1 | 67274409 | upstream gene variant | G/A | snv | 0.30 | 10 | ||
| rs731236 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 81 |