Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587779388 | 1.000 | 1 | 113898755 | frameshift variant | GT/- | delins | 1.4E-04 | 1.5E-04 | 5 | ||
rs531163149 | 1.000 | 16 | 70664131 | missense variant | G/A;C | snv | 1.3E-04; 4.1E-06 | 4 | |||
rs80338708 | 1.000 | 0.080 | 16 | 8847794 | missense variant | C/G;T | snv | 1.3E-04; 4.4E-05 | 3 | ||
rs762425351 | 0.925 | 0.200 | 9 | 129095573 | missense variant | C/T | snv | 1.2E-04 | 7.7E-05 | 7 | |
rs754129466 | 1.000 | 20 | 32436955 | stop gained | C/G;T | snv | 1.2E-04 | 4.9E-05 | 2 | ||
rs137852832 | 0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 | 17 | |
rs587779406 | 1.000 | 0.120 | 15 | 72346552 | synonymous variant | G/A | snv | 8.0E-05 | 1.0E-04 | 3 | |
rs80338686 | 0.925 | 0.080 | 3 | 15645468 | missense variant | C/A;T | snv | 3.3E-05; 7.5E-05 | 3 | ||
rs62514895 | 1.000 | 0.120 | 12 | 102917066 | splice region variant | C/A;T | snv | 7.2E-05 | 2 | ||
rs148234606 | 0.925 | 8 | 144360604 | missense variant | T/C | snv | 7.0E-05 | 7.7E-05 | 4 | ||
rs140119177 | 0.851 | 0.160 | 9 | 93447639 | missense variant | G/A | snv | 6.8E-05 | 2.2E-04 | 7 | |
rs121918329 | 1.000 | 0.080 | 2 | 190290425 | missense variant | T/C | snv | 6.4E-05 | 1.4E-05 | 2 | |
rs137853105 | 0.882 | 0.160 | 17 | 58206479 | missense variant | A/C | snv | 5.6E-05 | 2.8E-05 | 4 | |
rs778127154 | 1.000 | 0.120 | 6 | 24515259 | frameshift variant | T/- | del | 5.6E-05 | 4 | ||
rs587784543 | 1.000 | 19 | 36083171 | missense variant | G/A | snv | 5.3E-05 | 6.3E-05 | 2 | ||
rs149830411 | 0.827 | 0.360 | 17 | 46171276 | stop gained | G/A | snv | 5.2E-05 | 5.6E-05 | 15 | |
rs768933093 | 0.807 | 0.240 | 12 | 76348214 | missense variant | G/A | snv | 4.8E-05 | 4.9E-05 | 10 | |
rs757347274 | 0.925 | 1 | 235470849 | splice donor variant | C/T | snv | 4.8E-05 | 1.4E-05 | 3 | ||
rs750331613 | 0.882 | 0.040 | 4 | 93515346 | missense variant | C/T | snv | 4.8E-05 | 2.1E-05 | 5 | |
rs863225422 | 0.742 | 0.440 | 2 | 121530927 | non coding transcript exon variant | G/A | snv | 4.6E-05; 7.7E-06 | 4.9E-05 | 23 | |
rs80338701 | 0.776 | 0.360 | 16 | 8811088 | stop gained | C/A;T | snv | 4.4E-05; 5.4E-06 | 13 | ||
rs137852863 | 0.882 | 0.120 | 5 | 61073136 | stop gained | C/T | snv | 4.0E-05 | 3.5E-05 | 5 | |
rs201889294 | 0.925 | 6 | 98899282 | stop gained | G/A;T | snv | 4.0E-05 | 3 | |||
rs141949212 | 0.882 | 0.160 | 15 | 27845052 | missense variant | C/T | snv | 4.0E-05 | 2.0E-04 | 5 | |
rs763243200 | 2 | 42048839 | splice donor variant | G/A;T | snv | 3.8E-05 | 1 |