Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs5361 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 47 | |
rs1458766475 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 41 | ||
rs751527253 | 0.827 | 0.240 | 3 | 132689264 | splice acceptor variant | CT/- | del | 2.6E-04 | 6 | ||
rs386833760 | 0.790 | 0.360 | 4 | 15587929 | splice donor variant | G/- | delins | 1.9E-04 | 11 | ||
rs1553827236 | 0.882 | 0.200 | 4 | 15516757 | splice donor variant | G/A | snv | 7 | |||
rs1057518797 | 4 | 88008090 | frameshift variant | CCCGGGCA/TAGGACG | delins | 3 | |||||
rs1057518969 | 4 | 88036325 | frameshift variant | CT/- | delins | 3 | |||||
rs1553927823 | 0.925 | 0.240 | 4 | 88065804 | frameshift variant | TACG/- | delins | 3 | |||
rs1057518906 | 4 | 88007878 | stop gained | C/T | snv | 1.4E-05 | 1 | ||||
rs886039792 | 0.807 | 0.280 | 5 | 134874531 | splice donor variant | G/A | snv | 9 | |||
rs886039791 | 0.882 | 0.160 | 5 | 134893572 | inframe deletion | AGTTTGGCCCCTCAC/- | delins | 5 | |||
rs137852944 | 0.925 | 0.240 | 6 | 52083201 | missense variant | G/A | snv | 4.5E-04 | 4.7E-04 | 5 | |
rs786204707 | 0.925 | 0.200 | 6 | 52043636 | stop gained | C/T | snv | 4 | |||
rs1057518952 | 1.000 | 0.080 | 6 | 52024728 | frameshift variant | -/C | delins | 3 | |||
rs181208607 | 1.000 | 0.120 | 6 | 51847966 | stop gained | G/T | snv | 2.0E-05 | 2.8E-05 | 2 | |
rs754392766 | 1.000 | 0.120 | 6 | 52058355 | stop gained | G/A;C | snv | 2 | |||
rs113624356 | 0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 | 22 | |
rs137854521 | 0.851 | 0.200 | 11 | 22221100 | frameshift variant | -/A | delins | 9 | |||
rs886039804 | 0.882 | 0.120 | 11 | 61366050 | missense variant | A/G | snv | 4 | |||
rs786205134 | 0.925 | 0.160 | 11 | 111840653 | splice donor variant | A/T | snv | 3 | |||
rs386834158 | 0.851 | 0.280 | 12 | 88077790 | frameshift variant | T/- | delins | 2.2E-05 | 7.0E-06 | 10 | |
rs758522600 | 0.851 | 0.240 | 12 | 76347023 | frameshift variant | CTAA/- | delins | 4.0E-06 | 2.8E-05 | 7 | |
rs773386777 | 1.000 | 0.160 | 12 | 88093977 | splice acceptor variant | T/C | snv | 6 | |||
rs886039805 | 0.925 | 0.120 | 12 | 88129872 | frameshift variant | AA/- | delins | 5 | |||
rs886039806 | 0.851 | 0.160 | 14 | 58467887 | missense variant | T/A;C;G | snv | 8 |