Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs13000344 | 0.925 | 0.040 | 2 | 63062599 | downstream gene variant | T/G | snv | 0.11 | 2 | ||
rs12521388 | 1.000 | 0.040 | 5 | 25912004 | downstream gene variant | G/A | snv | 0.29 | 1 | ||
rs1346536 | 1.000 | 0.040 | 5 | 25915543 | downstream gene variant | A/G;T | snv | 1 | |||
rs6537835 | 1.000 | 0.040 | 1 | 114566293 | downstream gene variant | G/A | snv | 0.80 | 1 | ||
rs7274133 | 1.000 | 0.040 | 20 | 17213024 | downstream gene variant | A/G;T | snv | 1 | |||
rs6311 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 41 | ||
rs4570625 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 25 | ||
rs4291 | 0.724 | 0.400 | 17 | 63476833 | upstream gene variant | T/A;C | snv | 20 | |||
rs7294536 | 0.925 | 0.040 | 12 | 63154312 | upstream gene variant | T/C | snv | 0.26 | 2 | ||
rs10858047 | 1.000 | 0.040 | 1 | 114531255 | upstream gene variant | T/C | snv | 0.13 | 1 | ||
rs11899372 | 1.000 | 0.040 | 2 | 127016304 | upstream gene variant | G/T | snv | 6.1E-02 | 1 | ||
rs4519482 | 1.000 | 0.040 | 2 | 172098631 | upstream gene variant | A/T | snv | 0.58 | 1 | ||
rs6044680 | 1.000 | 0.040 | 20 | 17205717 | upstream gene variant | T/C | snv | 0.66 | 1 | ||
rs789859 | 1.000 | 0.040 | 3 | 194685159 | upstream gene variant | G/T | snv | 0.43 | 1 | ||
rs926938 | 1.000 | 0.040 | 1 | 114697195 | upstream gene variant | A/G;T | snv | 1 | |||
rs12690517 | 1.000 | 0.040 | 2 | 181509807 | splice region variant | A/C;G | snv | 1 | |||
rs7800565 | 1.000 | 0.040 | 7 | 16740384 | TF binding site variant | A/G | snv | 0.16 | 1 | ||
rs267608327 | 0.763 | 0.200 | X | 154030631 | splice acceptor variant | CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- | delins | 25 | |||
rs1568507354 | 0.827 | 0.200 | 19 | 38502879 | splice acceptor variant | G/A | snv | 6 | |||
rs1553920379 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 27 | |||
rs1057518345 | 0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins | 25 | |||
rs1562127631 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 24 | |||
rs1554210073 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 21 | |||
rs1562114190 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 21 | |||
rs1558373252 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 19 |