Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs386834236 | 0.882 | 0.120 | 17 | 80104542 | intron variant | T/G | snv | 3.4E-03 | 3.8E-03 | 6 | |
rs137852769 | 0.827 | 0.280 | 2 | 26195184 | missense variant | C/G | snv | 1.2E-03 | 1.0E-03 | 4 | |
rs80338903 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 25 | |
rs121908171 | 0.925 | 0.080 | 6 | 57194817 | stop gained | A/T | snv | 2.8E-04 | 3.6E-04 | 3 | |
rs34002892 | 0.851 | 0.200 | 12 | 101753470 | frameshift variant | GA/- | delins | 5.1E-04 | 3.5E-04 | 8 | |
rs138119149 | 0.807 | 0.280 | 6 | 44304512 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 | 9 | |
rs138632121 | 0.776 | 0.400 | 16 | 3026140 | missense variant | T/A | snv | 1.7E-04 | 2.0E-04 | 13 | |
rs150940923 | 1.000 | 0.240 | 16 | 3027170 | missense variant | G/C | snv | 1.8E-04 | 2.0E-04 | 3 | |
rs777218310 | 0.925 | 10 | 133369907 | frameshift variant | TA/- | delins | 1.6E-05 | 1.3E-04 | 4 | ||
rs766667249 | 1.000 | 16 | 578912 | inframe deletion | ACT/- | delins | 1.5E-04 | 1.1E-04 | 3 | ||
rs387907022 | 0.925 | 22 | 46353829 | missense variant | G/A | snv | 1.7E-04 | 1.1E-04 | 3 | ||
rs1341894581 | 0.925 | 2 | 232486499 | frameshift variant | ACCGGGCCCCGGTGGCGCTGCGCGCAGCGCCCAACGGGAAGCCCGG/- | delins | 3.3E-04 | 1.1E-04 | 3 | ||
rs121434407 | 0.882 | 0.120 | 9 | 128536414 | missense variant | G/A | snv | 2.7E-04 | 9.8E-05 | 5 | |
rs121964881 | 1.000 | 2 | 70958103 | missense variant | G/A | snv | 2.0E-05 | 9.1E-05 | 2 | ||
rs137853229 | 0.851 | 0.240 | 8 | 144513412 | stop gained | G/A | snv | 1.2E-04 | 8.4E-05 | 5 | |
rs80338677 | 0.925 | 0.080 | 19 | 12655693 | splice donor variant | C/G | snv | 9.3E-05 | 7.7E-05 | 4 | |
rs144346996 | 0.925 | 0.080 | 17 | 81934652 | splice donor variant | C/G | snv | 2.9E-05 | 7.7E-05 | 3 | |
rs147462227 | 1.000 | 0.040 | 10 | 70600458 | missense variant | C/T | snv | 1.4E-04 | 7.0E-05 | 2 | |
rs758522459 | 0.925 | 9 | 128323147 | missense variant | G/C | snv | 4.3E-05 | 7.0E-05 | 3 | ||
rs587776897 | 1.000 | 0.160 | 17 | 78997345 | frameshift variant | AG/- | del | 6.3E-05 | 2 | ||
rs746593718 | 1.000 | 1 | 235448437 | stop gained | -/AGTAA | delins | 2.0E-05 | 6.3E-05 | 2 | ||
rs111033178 | 0.851 | 0.200 | 11 | 77190108 | missense variant | G/A | snv | 7.5E-05 | 5.6E-05 | 6 | |
rs121918550 | 1.000 | 0.080 | 12 | 53309624 | missense variant | A/G | snv | 1.2E-04 | 4.9E-05 | 5 | |
rs781752990 | 1.000 | 15 | 89652601 | splice donor variant | A/C | snv | 3.5E-05 | 4.2E-05 | 2 | ||
rs587783211 | 0.925 | 0.120 | 1 | 197086966 | stop gained | G/A | snv | 2.0E-05 | 3.5E-05 | 3 |