| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs771551765 | 0.925 | 0.200 | 8 | 93815388 | missense variant | G/A | snv | 8.0E-06 | 4.2E-05 | 3 | |
| rs1553856553 | 0.925 | 0.200 | 3 | 189864391 | missense variant | C/T | snv | 3 | |||
| rs777593389 | 1.000 | 0.320 | 8 | 99156693 | stop gained | C/T | snv | 4.0E-06 | 3 | ||
| rs730882201 | 1.000 | 11 | 30336665 | missense variant | G/A | snv | 4 | ||||
| rs1558519731 | 0.925 | 2 | 60546204 | missense variant | C/G | snv | 4 | ||||
| rs767961672 | 0.925 | 0.200 | 14 | 28767822 | missense variant | G/A;T | snv | 4.0E-06 | 4 | ||
| rs730882219 | 0.882 | 0.200 | 17 | 745591 | missense variant | A/C;G | snv | 4.1E-06; 1.2E-05 | 4 | ||
| rs1057516037 | 0.925 | X | 72464626 | protein altering variant | TGGAG/AC | delins | 4 | ||||
| rs782304760 | 0.925 | 0.080 | 12 | 121442391 | missense variant | C/T | snv | 2.8E-05 | 7.0E-06 | 4 | |
| rs869312707 | 0.925 | 0.160 | 12 | 115963422 | missense variant | G/A | snv | 4 | |||
| rs571640983 | 0.925 | 1 | 39967913 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 4 | |||
| rs531163149 | 1.000 | 16 | 70664131 | missense variant | G/A;C | snv | 1.3E-04; 4.1E-06 | 4 | |||
| rs104893648 | 0.882 | 0.320 | 2 | 15945883 | missense variant | G/A;T | snv | 4 | |||
| rs1553370260 | 0.925 | 0.320 | 2 | 15942129 | frameshift variant | -/CGCT | delins | 4 | |||
| rs1555789140 | 0.882 | 0.120 | 20 | 17970217 | frameshift variant | C/- | delins | 4 | |||
| rs1554643142 | 0.925 | 0.120 | 8 | 143818042 | frameshift variant | CCTGCCCTATGTTGCTGGG/- | delins | 4 | |||
| rs761964407 | 1.000 | 6 | 158114826 | frameshift variant | -/ATAG | delins | 1.5E-04 | 1.5E-04 | 4 | ||
| rs1135401758 | 0.882 | 0.080 | 6 | 3227511 | missense variant | C/G | snv | 4 | |||
| rs747824231 | 0.882 | 0.040 | 6 | 31782361 | missense variant | C/G;T | snv | 4.1E-06 | 4 | ||
| rs763777257 | 0.882 | 0.040 | 6 | 31785269 | stop gained | G/A | snv | 4.0E-06 | 4 | ||
| rs1569508922 | 0.882 | 0.160 | X | 111681268 | missense variant | T/A | snv | 5 | |||
| rs1560162116 | 0.882 | 0.080 | 3 | 184242930 | missense variant | T/C | snv | 5 | |||
| rs1560164682 | 0.882 | 0.080 | 3 | 184245709 | splice region variant | T/C | snv | 5 | |||
| rs587779388 | 1.000 | 1 | 113898755 | frameshift variant | GT/- | delins | 1.4E-04 | 1.5E-04 | 5 | ||
| rs1064795945 | 1.000 | 0.120 | 1 | 197102332 | frameshift variant | AAGT/- | delins | 5 |