| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs72613567 | 0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 | 14 | ||
| rs1557052530 | 1.000 | 0.160 | X | 153726031 | frameshift variant | -/AACG | delins | 1 | |||
| rs1569541115 | 1.000 | 0.160 | X | 153740598 | frameshift variant | -/C | delins | 1 | |||
| rs193922093 | 1.000 | 0.160 | X | 153736484 | frameshift variant | -/C | delins | 1 | |||
| rs713993050 | 1.000 | 0.160 | X | 153725514 | frameshift variant | -/C | delins | 1 | |||
| rs1557052397 | 1.000 | 0.160 | X | 153725801 | frameshift variant | -/CTACTACC | delins | 1 | |||
| rs1569541207 | 1.000 | 0.160 | X | 153743506 | frameshift variant | -/G | delins | 1 | |||
| rs1557055392 | 1.000 | 0.160 | X | 153743494 | frameshift variant | -/GC | delins | 1 | |||
| rs1569540665 | 1.000 | 0.160 | X | 153725346 | missense variant | A/C | snv | 1 | |||
| rs781862879 | 1.000 | 0.160 | X | 153740200 | missense variant | A/C | snv | 5.5E-06 | 9.4E-06 | 1 | |
| rs781703310 | 1.000 | 0.160 | 7 | 20742967 | missense variant | A/C;G | snv | 4.0E-06; 4.0E-06 | 1 | ||
| rs797044610 | 1.000 | 0.160 | X | 153726153 | missense variant | A/C;G | snv | 1 | |||
| rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
| rs1223231582 | 0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 | 24 | ||
| rs128624216 | 1.000 | 0.160 | X | 153725709 | missense variant | A/G | snv | 1 | |||
| rs1557052390 | 1.000 | 0.160 | X | 153725787 | missense variant | A/G | snv | 1 | |||
| rs1557055260 | 1.000 | 0.160 | X | 153743032 | missense variant | A/G | snv | 1 | |||
| rs1569541109 | 1.000 | 0.160 | X | 153740572 | splice acceptor variant | A/G | snv | 1 | |||
| rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
| rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
| rs1557052362 | 1.000 | 0.160 | X | 153725708 | missense variant | A/T | snv | 1 | |||
| rs1569541000 | 1.000 | 0.160 | X | 153736126 | stop gained | A/T | snv | 1 | |||
| rs387906494 | 1.000 | 0.160 | X | 153737178 | frameshift variant | AG/- | del | 1 | |||
| rs387906497 | 1.000 | 0.160 | X | 153725249 | start lost | AGCCAGCCCAGGTGACATGCCGGTGC/- | delins | 1 | |||
| rs1557052133 | 1.000 | 0.160 | X | 153725282 | frameshift variant | AGGCCCC/CT | delins | 1 |