| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1042636 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 23 | |
| rs121434264 | 0.851 | 0.080 | 1 | 193125171 | missense variant | T/C | snv | 6 | |||
| rs80356649 | 0.882 | 0.160 | 1 | 193142016 | frameshift variant | -/AG | ins | 4.0E-06 | 3 | ||
| rs121434265 | 0.925 | 0.080 | 1 | 193125142 | stop gained | C/G | snv | 3 | |||
| rs374453691 | 0.925 | 0.080 | 9 | 76707245 | missense variant | C/T | snv | 2.0E-04 | 1.7E-04 | 2 | |
| rs1060500009 | 1.000 | 0.080 | 1 | 193130178 | frameshift variant | A/- | delins | 1 | |||
| rs1060500012 | 1.000 | 0.080 | 1 | 193142067 | splice donor variant | G/T | snv | 1 | |||
| rs1060500019 | 1.000 | 0.080 | 1 | 193138111 | frameshift variant | GA/- | delins | 1 | |||
| rs1553279085 | 1.000 | 0.080 | 1 | 193138141 | frameshift variant | -/A | delins | 1 | |||
| rs1553279088 | 1.000 | 0.080 | 1 | 193138166 | stop gained | C/T | snv | 1 | |||
| rs1553288362 | 1.000 | 0.080 | 1 | 193212082 | frameshift variant | C/- | delins | 1 | |||
| rs760591174 | 1.000 | 0.080 | 1 | 193142016 | frameshift variant | AGAG/-;AGAGAG | delins | 1 | |||
| rs1060500020 | 1.000 | 0.080 | 1 | 193122203 | frameshift variant | G/- | delins | 1 | |||
| rs1558276082 | 1.000 | 0.080 | 1 | 193122209 | frameshift variant | -/GCTTAGCGTCCTGCGACAGT | delins | 1 | |||
| rs1558276157 | 1.000 | 0.080 | 1 | 193122253 | frameshift variant | TT/- | del | 1 | |||
| rs121434263 | 1.000 | 0.080 | 1 | 193122328 | stop gained | G/A | snv | 1 | |||
| rs1558276054 | 1.000 | 0.080 | 1 | 193122201 | start lost | A/G | snv | 1 | |||
| rs587776560 | 1.000 | 0.080 | 1 | 193122282 | frameshift variant | G/- | delins | 1 | |||
| rs587776561 | 1.000 | 0.080 | 1 | 193122212 | inframe deletion | CTTAGCGTCCTGCGACAG/- | delins | 1 | |||
| rs794727303 | 1.000 | 0.080 | 1 | 193125218 | splice donor variant | G/C;T | snv | 1 | |||
| rs1553278844 | 1.000 | 0.080 | 1 | 193135542 | stop gained | C/T | snv | 1 | |||
| rs756406117 | 1.000 | 0.080 | 11 | 13492786 | missense variant | C/A | snv | 4.0E-06 | 1 |