Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs886039814 | 0.807 | 0.200 | 4 | 39218060 | missense variant | C/G | snv | 13 | |||
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 | |||
rs786205636 | 0.827 | 0.320 | 2 | 169493750 | missense variant | G/A | snv | 7 | |||
rs886039797 | 0.807 | 0.280 | 16 | 56502807 | missense variant | A/C | snv | 4.0E-06 | 7 | ||
rs886039812 | 0.882 | 0.160 | 11 | 103155395 | missense variant | T/G | snv | 7 | |||
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 | |
rs764109067 | 0.851 | 0.280 | 3 | 94036664 | missense variant | G/A;T | snv | 4.0E-06 | 6 | ||
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 | |
rs386833492 | 0.851 | 0.120 | 5 | 149960981 | splice donor variant | T/C | snv | 5.4E-04 | 5 | ||
rs766836061 | 0.851 | 0.120 | 5 | 149981300 | stop gained | C/G;T | snv | 4.0E-06 | 5 | ||
rs886039808 | 0.851 | 0.480 | 12 | 88083848 | stop gained | C/T | snv | 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 | |||
rs1057517483 | 0.851 | 0.120 | 5 | 149978193 | stop gained | C/T | snv | 4 | |||
rs1057517514 | 0.851 | 0.120 | 5 | 149980339 | stop gained | C/G | snv | 4 | |||
rs1057517523 | 0.851 | 0.120 | 5 | 149977837 | stop gained | C/G | snv | 4 | |||
rs1057517532 | 0.851 | 0.120 | 5 | 149980653 | stop gained | G/T | snv | 4 | |||
rs104893916 | 0.882 | 0.120 | 5 | 149981626 | missense variant | G/T | snv | 4.0E-06 | 2.1E-05 | 3 | |
rs104893920 | 0.882 | 0.120 | 5 | 149980866 | missense variant | A/G | snv | 2 | |||
rs104893921 | 0.925 | 0.120 | 5 | 149980954 | missense variant | A/C | snv | 7.0E-06 | 2 | ||
rs121908078 | 0.925 | 0.120 | 5 | 149981128 | missense variant | C/A | snv | 4.8E-05 | 7.0E-06 | 2 |