| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121917835 | 0.925 | 0.040 | 8 | 22164010 | missense variant | T/A | snv | 2 | |||
| rs1554038257 | 0.925 | 0.040 | 5 | 1255333 | frameshift variant | GA/- | delins | 2 | |||
| rs1554042899 | 0.925 | 0.040 | 5 | 1293837 | frameshift variant | AG/- | delins | 2 | |||
| rs1554043139 | 0.925 | 0.040 | 5 | 1294810 | stop gained | C/G;T | snv | 2 | |||
| rs2744371 | 0.925 | 0.080 | 6 | 7553941 | intron variant | A/C;G | snv | 2 | |||
| rs863225053 | 0.925 | 0.040 | 20 | 63690162 | inframe deletion | ATGTCATCC/- | delins | 2 | |||
| rs863225129 | 0.925 | 0.160 | 20 | 63687936 | splice acceptor variant | G/A | snv | 2 | |||
| rs111521887 | 1.000 | 0.040 | 11 | 1291476 | intron variant | C/G | snv | 0.12 | 1 | ||
| rs1555899640 | 1.000 | 0.040 | 20 | 63661935 | frameshift variant | TC/- | delins | 1 | |||
| rs1881984 | 1.000 | 0.040 | 3 | 169746671 | intergenic variant | A/G | snv | 0.30 | 1 | ||
| rs28673968 | 1.000 | 0.040 | 4 | 89655739 | intron variant | T/C | snv | 0.37 | 1 | ||
| rs5743894 | 1.000 | 0.040 | 11 | 1303542 | intron variant | T/A;C | snv | 1 | |||
| rs62025270 | 1.000 | 0.040 | 15 | 85756967 | upstream gene variant | G/A | snv | 0.17 | 1 | ||
| rs73606754 | 1.000 | 0.040 | 19 | 54420809 | splice region variant | C/G;T | snv | 1 | |||
| rs863225130 | 1.000 | 0.040 | 20 | 63688161 | missense variant | T/G | snv | 1 | |||
| rs869312855 | 1.000 | 0.040 | 20 | 63678184 | splice donor variant | -/T | delins | 1 | |||
| rs397728201 | 0.925 | 0.160 | 10 | 79614033 | stop gained | C/A;T | snv | 3.6E-05; 4.0E-06 | 4 | ||
| rs1043618 | 0.752 | 0.280 | 6 | 31815730 | 5 prime UTR variant | G/A;C;T | snv | 0.39; 2.0E-05; 4.0E-06 | 10 | ||
| rs398123017 | 0.851 | 0.160 | 20 | 63693211 | stop gained | C/A;G;T | snv | 4.0E-06; 3.2E-05 | 4 | ||
| rs146221660 | 0.925 | 0.040 | 20 | 63693248 | missense variant | G/A;T | snv | 2.8E-05; 4.0E-06 | 2 | ||
| rs776744306 | 0.882 | 0.160 | 20 | 63690442 | splice donor variant | G/A;C | snv | 4.5E-06 | 3 | ||
| rs113993959 | 0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 | 25 | ||
| rs121918666 | 0.882 | 0.160 | 5 | 1266524 | missense variant | C/T | snv | 8.2E-06 | 7.0E-06 | 3 | |
| rs776525427 | 1.000 | 0.040 | 20 | 63695387 | stop gained | C/G;T | snv | 1.0E-05 | 7.0E-06 | 1 | |
| rs748223349 | 1.000 | 0.040 | 20 | 63688001 | missense variant | G/A;C | snv | 1.6E-05 | 1 |