Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs886039799 | 0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del | 17 | |||
rs886039814 | 0.807 | 0.200 | 4 | 39218060 | missense variant | C/G | snv | 13 | |||
rs886039809 | 0.807 | 0.480 | 14 | 58498824 | frameshift variant | A/- | del | 11 | |||
rs886039807 | 0.776 | 0.480 | 16 | 75541466 | non coding transcript exon variant | A/G | snv | 4.2E-06 | 11 | ||
rs886039794 | 0.851 | 0.480 | 8 | 85109594 | splice acceptor variant | G/C | snv | 8 | |||
rs886039797 | 0.807 | 0.280 | 16 | 56502807 | missense variant | A/C | snv | 4.0E-06 | 7 | ||
rs786205636 | 0.827 | 0.320 | 2 | 169493750 | missense variant | G/A | snv | 7 | |||
rs886039812 | 0.882 | 0.160 | 11 | 103155395 | missense variant | T/G | snv | 7 | |||
rs764109067 | 0.851 | 0.280 | 3 | 94036664 | missense variant | G/A;T | snv | 4.0E-06 | 6 | ||
rs104893915 | 0.776 | 0.200 | 5 | 149980428 | missense variant | C/T | snv | 9.8E-04 | 1.0E-03 | 6 | |
rs751375244 | 0.827 | 0.280 | 1 | 36139776 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 6 | |
rs886039808 | 0.851 | 0.480 | 12 | 88083848 | stop gained | C/T | snv | 5 | |||
rs104893919 | 0.851 | 0.120 | 5 | 149978184 | stop gained | C/T | snv | 1.3E-04 | 1.2E-04 | 5 | |
rs104893924 | 0.851 | 0.120 | 5 | 149981550 | missense variant | T/A | snv | 1.1E-04 | 1.3E-04 | 5 | |
rs121908077 | 0.851 | 0.120 | 5 | 149980603 | inframe insertion | TGTTGT/-;TGT;TGTTGTTGT | delins | 3.5E-05 | 5 | ||
rs386833492 | 0.851 | 0.120 | 5 | 149960981 | splice donor variant | T/C | snv | 5.4E-04 | 5 | ||
rs386833498 | 0.851 | 0.120 | 5 | 149981316 | frameshift variant | A/- | delins | 5 | |||
rs763198695 | 0.851 | 0.120 | 5 | 149978135 | frameshift variant | TG/- | delins | 4.0E-06 | 7.0E-06 | 5 | |
rs766836061 | 0.851 | 0.120 | 5 | 149981300 | stop gained | C/G;T | snv | 4.0E-06 | 5 | ||
rs886039810 | 0.851 | 0.480 | 8 | 93809830 | missense variant | G/C | snv | 5 | |||
rs104893918 | 0.851 | 0.120 | 5 | 149981737 | missense variant | C/T | snv | 3.6E-05 | 2.8E-05 | 4 | |
rs1057517461 | 0.851 | 0.120 | 5 | 149978353 | splice donor variant | T/C | snv | 4 | |||
rs1057517462 | 0.851 | 0.120 | 5 | 149977857 | frameshift variant | T/- | delins | 4 | |||
rs1057517471 | 0.851 | 0.120 | 5 | 149980903 | frameshift variant | -/T | delins | 4 | |||
rs1057517474 | 0.851 | 0.120 | 5 | 149981546 | frameshift variant | ACTG/- | delins | 4 |