| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1800553 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 17 | |
| rs61672878 | 0.776 | 0.200 | 1 | 156136094 | missense variant | G/A;T | snv | 11 | |||
| rs58034145 | 0.827 | 0.160 | 1 | 156134830 | missense variant | A/C | snv | 10 | |||
| rs58932704 | 0.776 | 0.200 | 1 | 156136413 | missense variant | C/T | snv | 8 | |||
| rs59332535 | 0.827 | 0.160 | 1 | 156134911 | missense variant | G/A | snv | 5 | |||
| rs60458016 | 0.827 | 0.120 | 1 | 156136036 | stop gained | G/A;T | snv | 5 | |||
| rs199474724 | 0.851 | 0.120 | 1 | 156134839 | missense variant | G/A | snv | 4 | |||
| rs367543077 | 0.882 | 0.120 | 1 | 235450286 | stop gained | G/A | snv | 3 | |||
| rs267607576 | 0.925 | 0.160 | 1 | 156136219 | missense variant | G/A;C | snv | 1.2E-05 | 2 | ||
| rs267607634 | 0.925 | 0.120 | 1 | 156136045 | missense variant | G/A;C | snv | 2 | |||
| rs57207746 | 0.925 | 0.120 | 1 | 156134860 | missense variant | G/A | snv | 2 | |||
| rs1553264624 | 1.000 | 0.120 | 1 | 156130724 | inframe deletion | AGCGCACGCTGGAGG/- | del | 1 | |||
| rs1553265369 | 1.000 | 0.120 | 1 | 156134954 | inframe deletion | GAG/- | delins | 1 | |||
| rs1553265433 | 1.000 | 0.120 | 1 | 156135208 | missense variant | G/C | snv | 1 | |||
| rs1553265436 | 1.000 | 0.120 | 1 | 156135214 | inframe deletion | GAACAG/- | delins | 1 | |||
| rs1553265761 | 1.000 | 0.120 | 1 | 156136111 | inframe deletion | GAG/- | delins | 1 | |||
| rs267607644 | 1.000 | 0.120 | 1 | 156115022 | missense variant | T/C | snv | 1 | |||
| rs369758958 | 1.000 | 0.120 | 1 | 228316753 | missense variant | C/T | snv | 3.3E-05 | 7.0E-06 | 1 | |
| rs769561386 | 1.000 | 0.120 | 1 | 156138575 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 1 | |
| rs780302064 | 1.000 | 0.120 | 1 | 156137212 | missense variant | C/G;T | snv | 9.5E-06 | 1 | ||
| rs757082154 | 1.000 | 0.120 | 2 | 178527491 | stop gained | G/A | snv | 1.2E-05 | 9 | ||
| rs760768093 | 0.882 | 0.160 | 2 | 178533255 | frameshift variant | C/- | delins | 2.4E-05 | 1.4E-05 | 7 | |
| rs1553521119 | 0.925 | 0.120 | 2 | 71513892 | frameshift variant | C/- | del | 5 | |||
| rs770905160 | 0.882 | 0.120 | 2 | 71656236 | stop gained | C/G;T | snv | 1.2E-05 | 5 | ||
| rs200916654 | 0.925 | 0.120 | 2 | 71551635 | missense variant | T/C | snv | 2.9E-05 | 4 |