Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs727503974 | 0.925 | 0.040 | 20 | 63439704 | missense variant | G/A | snv | 2 | |||
rs1060500603 | 1.000 | 0.040 | 20 | 63407083 | frameshift variant | -/CTGGCGC | delins | 1 | |||
rs1555850590 | 1.000 | 0.040 | 20 | 63406985 | frameshift variant | G/- | delins | 1 | |||
rs1555873656 | 1.000 | 0.040 | 20 | 63444662 | frameshift variant | G/- | del | 1 | |||
rs1555873823 | 1.000 | 0.040 | 20 | 63444834 | missense variant | T/C | snv | 1 | |||
rs796052657 | 1.000 | 0.040 | 20 | 63428424 | frameshift variant | G/- | delins | 1 | |||
rs878855236 | 1.000 | 0.040 | 20 | 63415039 | frameshift variant | CA/- | delins | 1 | |||
rs1555873981 | 1.000 | 0.040 | 20 | 63445313 | frameshift variant | C/- | delins | 1 | |||
rs118192194 | 0.882 | 0.040 | 20 | 63446769 | missense variant | G/A | snv | 3 | |||
rs773171451 | 0.882 | 0.040 | 20 | 63413535 | missense variant | G/A;T | snv | 8.0E-06 | 5 | ||
rs886044717 | 0.925 | 0.040 | 9 | 135779423 | missense variant | T/A | snv | 3 | |||
rs1057518066 | 1.000 | 0.040 | 9 | 135765732 | missense variant | C/T | snv | 1 | |||
rs1057521537 | 1.000 | 0.040 | 2 | 166002695 | missense variant | C/A;G | snv | 1 | |||
rs1553524865 | 1.000 | 0.040 | 2 | 166002471 | splice donor variant | C/A | snv | 1 | |||
rs1553525036 | 1.000 | 0.040 | 2 | 166002570 | frameshift variant | ATCAGTATGATTA/- | delins | 1 | |||
rs1553529426 | 1.000 | 0.040 | 2 | 166009724 | frameshift variant | T/- | del | 1 | |||
rs1553520318 | 1.000 | 0.040 | 2 | 165992101 | missense variant | C/T | snv | 1 | |||
rs1553540389 | 1.000 | 0.040 | 2 | 166036395 | frameshift variant | T/- | delins | 1 | |||
rs761333438 | 1.000 | 0.040 | 2 | 165994191 | stop gained | C/A;T | snv | 1.2E-05 | 1 | ||
rs878854263 | 1.000 | 0.040 | 2 | 166002474 | missense variant | C/A | snv | 1 | |||
rs747376305 | 1.000 | 0.040 | 20 | 63433841 | stop gained | G/A;C | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs118192236 | 0.851 | 0.080 | 20 | 63413472 | stop gained | G/A;C | snv | 4 | |||
rs759584387 | 0.882 | 0.040 | 20 | 63413556 | missense variant | G/A;T | snv | 4.0E-06 | 3 | ||
rs587777420 | 0.925 | 0.040 | 12 | 8089982 | stop gained | C/T | snv | 7.0E-06 | 2 | ||
rs114925667 | 0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 | 64 |