| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs146312522 | 1.000 | 0.080 | 8 | 27788890 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 1 | |
| rs1554554098 | 1.000 | 0.080 | 8 | 27777058 | frameshift variant | -/G | delins | 1 | |||
| rs1554555716 | 1.000 | 0.080 | 8 | 27787982 | frameshift variant | -/G;T | ins | 1 | |||
| rs797045565 | 1.000 | 0.080 | 8 | 27780206 | frameshift variant | A/TTTTAT | delins | 1 | |||
| rs797045566 | 1.000 | 0.080 | 8 | 27780218 | frameshift variant | -/A | delins | 7.0E-06 | 1 | ||
| rs80359844 | 1.000 | 0.080 | 8 | 27776559 | frameshift variant | AT/- | delins | 1 | |||
| rs80359845 | 1.000 | 0.080 | 8 | 27776600 | frameshift variant | GAGA/- | delins | 1 | |||
| rs80359846 | 1.000 | 0.080 | 8 | 27776614 | frameshift variant | AAAGA/- | delins | 1 | |||
| rs80359847 | 1.000 | 0.080 | 8 | 27776614 | frameshift variant | AA/-;AAA | delins | 1.4E-05 | 1 | ||
| rs80359848 | 1.000 | 0.080 | 8 | 27776719 | frameshift variant | -/A | delins | 1 | |||
| rs80359849 | 1.000 | 0.080 | 8 | 27776813 | stop gained | C/T | snv | 8.0E-06 | 1 | ||
| rs80359850 | 1.000 | 0.080 | 8 | 27776912 | stop gained | C/T | snv | 1 | |||
| rs80359851 | 1.000 | 0.080 | 8 | 27777052 | frameshift variant | GT/- | delins | 7.0E-06 | 1 | ||
| rs80359852 | 1.000 | 0.080 | 8 | 27777060 | frameshift variant | A/-;AA | delins | 1 | |||
| rs80359855 | 1.000 | 0.080 | 8 | 27777070 | frameshift variant | TT/- | delins | 1 | |||
| rs80359856 | 1.000 | 0.080 | 8 | 27780186 | frameshift variant | CAGA/- | delins | 1 | |||
| rs80359857 | 1.000 | 0.080 | 8 | 27780189 | frameshift variant | AG/- | delins | 1 | |||
| rs80359858 | 1.000 | 0.080 | 8 | 27780266 | splice donor variant | TAAG/- | delins | 3.5E-05 | 1 | ||
| rs80359859 | 1.000 | 0.080 | 8 | 27787976 | frameshift variant | AAA/-;AAAA | delins | 1 | |||
| rs80359861 | 1.000 | 0.080 | 8 | 27788003 | splice donor variant | G/A | snv | 4.0E-06 | 2.1E-05 | 1 | |
| rs80359862 | 1.000 | 0.080 | 8 | 27788840 | splice region variant | A/G;T | snv | 1.6E-05; 1.2E-05 | 1 | ||
| rs80359863 | 1.000 | 0.080 | 8 | 27788979 | splice donor variant | G/C | snv | 1 | |||
| rs80359864 | 1.000 | 0.080 | 8 | 27791968 | stop gained | G/A | snv | 1 | |||
| rs80359865 | 1.000 | 0.080 | 8 | 27792650 | intron variant | G/A;C | snv | 8.0E-06 | 1 | ||
| rs80359866 | 1.000 | 0.080 | 8 | 27792771 | frameshift variant | AG/- | delins | 1 |