| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs80358284 | 0.790 | 0.240 | 11 | 86952443 | missense variant | T/A;C | snv | 4.0E-06; 2.4E-05 | 10 | ||
| rs1800552 | 0.851 | 0.080 | 1 | 94010821 | missense variant | C/T | snv | 1.6E-03 | 1.5E-03 | 4 | |
| rs1057519379 | 0.882 | 0.080 | 3 | 41233777 | frameshift variant | -/C | ins | 3 | |||
| rs748653573 | 0.882 | 0.080 | 3 | 41238067 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 3 | ||
| rs61735304 | 0.882 | 0.080 | 11 | 86954989 | missense variant | G/A | snv | 1.7E-02 | 1.3E-02 | 3 | |
| rs28933684 | 0.882 | 0.160 | X | 43949831 | missense variant | G/A;T | snv | 3 | |||
| rs80358294 | 0.882 | 0.080 | 11 | 86951506 | missense variant | C/G;T | snv | 1.2E-05 | 3 | ||
| rs373273223 | 0.882 | 0.080 | 11 | 46705063 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 3 | |
| rs80358282 | 0.925 | 0.080 | 11 | 86954881 | missense variant | G/A | snv | 5.2E-04 | 1.5E-04 | 2 | |
| rs80358295 | 0.925 | 0.080 | 11 | 86951471 | frameshift variant | GTCT/- | delins | 8.0E-06 | 2.1E-05 | 2 | |
| rs80358322 | 0.925 | 11 | 68439918 | splice donor variant | T/G | snv | 6.5E-06; 6.5E-06 | 2 | |||
| rs80358287 | 0.925 | 0.080 | 11 | 86952215 | missense variant | A/G | snv | 2 | |||
| rs869312819 | 0.925 | 0.080 | 13 | 49544736 | splice donor variant | C/T | snv | 4.0E-06 | 2 | ||
| rs768012106 | 1.000 | 3 | 41239145 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | ||
| rs1308485193 | 1.000 | 11 | 68425107 | missense variant | T/C;G | snv | 4.0E-06 | 1 | |||
| rs761919591 | 1.000 | 11 | 68386565 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 1 | ||
| rs919205099 | 1.000 | 11 | 86952386 | missense variant | C/T | snv | 4.0E-06 | 1 | |||
| rs1171910750 | 1.000 | 7 | 120838835 | inframe deletion | GAT/- | delins | 4.0E-06 | 1 |