Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057516643 | 1.000 | 0.160 | 13 | 51949717 | frameshift variant | A/- | del | 1 | |||
rs1057516732 | 1.000 | 0.160 | 13 | 51957515 | splice donor variant | C/- | delins | 1 | |||
rs1057516740 | 1.000 | 0.160 | 13 | 51937579 | frameshift variant | T/- | del | 1 | |||
rs1057516844 | 1.000 | 0.160 | 13 | 51958363 | missense variant | G/A | snv | 1 | |||
rs1057516893 | 1.000 | 0.160 | 13 | 51965025 | frameshift variant | C/- | delins | 1 | |||
rs1057516940 | 1.000 | 0.160 | 13 | 51964920 | frameshift variant | -/T | delins | 1 | |||
rs1057517024 | 1.000 | 0.160 | 13 | 51965035 | splice acceptor variant | T/C | snv | 1 | |||
rs1057517141 | 1.000 | 0.160 | 13 | 51970697 | frameshift variant | -/AA | delins | 1 | |||
rs1057517191 | 1.000 | 0.160 | 13 | 51934912 | frameshift variant | G/- | delins | 1 | |||
rs1057517233 | 1.000 | 0.160 | 13 | 51937395 | splice acceptor variant | T/C | snv | 1 | |||
rs1057517310 | 1.000 | 0.160 | 13 | 51949710 | missense variant | C/A | snv | 1 | |||
rs1057517351 | 1.000 | 0.160 | 13 | 51975169 | splice acceptor variant | C/A | snv | 7.0E-06 | 1 | ||
rs1057517384 | 1.000 | 0.160 | 13 | 51974830 | frameshift variant | -/GC | delins | 1 | |||
rs1057517444 | 1.000 | 0.160 | 13 | 51970692 | frameshift variant | TTTG/- | delins | 1 | |||
rs1057520235 | 1.000 | 0.160 | 13 | 51950277 | missense variant | A/G | snv | 1 | |||
rs1060499593 | 1.000 | 0.160 | 13 | 51970658 | frameshift variant | CACT/- | del | 1 | |||
rs1064797072 | 1.000 | 0.160 | 13 | 51944116 | missense variant | C/A | snv | 1 | |||
rs1085307057 | 1.000 | 0.160 | 13 | 51958517 | stop gained | G/A | snv | 1 | |||
rs1131691741 | 1.000 | 0.160 | 13 | 51937305 | missense variant | T/G | snv | 7.0E-06 | 1 | ||
rs1160679283 | 1.000 | 0.160 | 13 | 51935660 | missense variant | A/G | snv | 4.1E-06 | 1 | ||
rs1169959260 | 1.000 | 0.160 | 13 | 51949681 | missense variant | A/C | snv | 7.0E-06 | 1 | ||
rs1173050016 | 1.000 | 0.160 | 13 | 51964924 | missense variant | A/C | snv | 1 | |||
rs1173623580 | 1.000 | 0.160 | 13 | 51944143 | missense variant | G/A;C | snv | 4.0E-06; 8.0E-06 | 1 | ||
rs1176709391 | 1.000 | 0.160 | 13 | 51974069 | frameshift variant | TTGGGAG/- | delins | 1.2E-05 | 3.5E-05 | 1 | |
rs1180133690 | 1.000 | 0.160 | 13 | 51958443 | stop gained | -/T | delins | 7.0E-06 | 1 |