| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs11205277 | 1.000 | 0.120 | 1 | 149920979 | upstream gene variant | A/C;G;T | snv | 5 | |||
| rs797045954 | 0.851 | 0.160 | 1 | 149923568 | frameshift variant | TCGAGGGGGAACTGGTGGCC/- | delins | 5 | |||
| rs387907186 | 0.925 | 0.120 | 1 | 149923670 | frameshift variant | G/-;GG | delins | 3 | |||
| rs797045128 | 1.000 | 0.120 | 1 | 149925922 | frameshift variant | GGG/-;GG;GGGG | delins | 3 | |||
| rs387907185 | 1.000 | 0.120 | 1 | 149927759 | start lost | T/C | snv | 1 | |||
| rs397515324 | 1.000 | 0.120 | 1 | 149923922 | stop gained | G/A | snv | 1 | |||
| rs782357237 | 1.000 | 0.120 | 1 | 149923867 | frameshift variant | -/G | delins | 1 | |||
| rs797045121 | 1.000 | 0.120 | 1 | 149923559 | frameshift variant | CTCGAAG/- | del | 1 | |||
| rs797045122 | 1.000 | 0.120 | 1 | 149923585 | frameshift variant | G/- | delins | 1 | |||
| rs797045123 | 1.000 | 0.120 | 1 | 149923618 | frameshift variant | G/- | delins | 1 | |||
| rs797045124 | 1.000 | 0.120 | 1 | 149923668 | frameshift variant | -/T | delins | 1 | |||
| rs797045125 | 1.000 | 0.120 | 1 | 149925835 | splice donor variant | C/T | snv | 1 | |||
| rs797045126 | 1.000 | 0.120 | 1 | 149925885 | frameshift variant | A/- | del | 1 | |||
| rs797045127 | 1.000 | 0.120 | 1 | 149925912 | frameshift variant | -/ATACCCC | delins | 1 | |||
| rs797045129 | 1.000 | 0.120 | 1 | 149925952 | frameshift variant | -/T | delins | 1 | |||
| rs797045130 | 1.000 | 0.120 | 1 | 149925980 | frameshift variant | T/- | del | 1 | |||
| rs797045131 | 1.000 | 0.120 | 1 | 149926417 | frameshift variant | -/TGGG | delins | 4.0E-06 | 1 | ||
| rs797045132 | 1.000 | 0.120 | 1 | 149926457 | stop gained | G/A | snv | 1 | |||
| rs797045133 | 1.000 | 0.120 | 1 | 149926630 | stop gained | G/T | snv | 1 | |||
| rs797045134 | 1.000 | 0.120 | 1 | 149927241 | frameshift variant | A/- | del | 1 | |||
| rs797045955 | 1.000 | 0.120 | 1 | 149926889 | stop gained | C/A | snv | 1 | |||
| rs797045956 | 1.000 | 0.120 | 1 | 149927283 | frameshift variant | CA/- | delins | 1 | |||
| rs797045957 | 1.000 | 0.120 | 1 | 149926006 | frameshift variant | CACTGGGGGTGGG/- | delins | 1 |