Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs61816761 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 28 | ||
rs1057521223 | 1.000 | 0.040 | 2 | 165373339 | stop gained | G/A;T | snv | 5 | |||
rs1060499733 | 0.851 | 0.120 | 3 | 47846757 | missense variant | A/G | snv | 11 | |||
rs796052243 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 54 | |||
rs146539065 | 0.752 | 0.240 | 4 | 25145092 | synonymous variant | C/T | snv | 2.8E-05 | 4.2E-05 | 34 | |
rs776969714 | 0.752 | 0.240 | 4 | 25145129 | splice acceptor variant | -/C | delins | 4.2E-05 | 34 | ||
rs1380822792 | 0.882 | 0.080 | 4 | 139336933 | frameshift variant | CTTGA/- | delins | 7 | |||
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 2 | |||
rs1131692231 | 0.827 | 0.280 | 5 | 157294834 | missense variant | C/T | snv | 13 | |||
rs1085307845 | 0.752 | 0.320 | 6 | 79025582 | missense variant | G/T | snv | 21 | |||
rs1562114190 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 21 | |||
rs1562171209 | 0.851 | 0.160 | 6 | 79003821 | missense variant | T/C | snv | 9 | |||
rs755246809 | 0.827 | 0.280 | 6 | 135404951 | frameshift variant | T/- | delins | 5.9E-04 | 4.9E-05 | 7 | |
rs1554317002 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 45 | |||
rs1554389088 | 0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv | 27 | |||
rs142110773 | 0.882 | 0.160 | 7 | 50463317 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 13 | |
rs370717845 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 33 | |||
rs1554888939 | 0.683 | 0.640 | 9 | 137798823 | missense variant | G/T | snv | 58 | |||
rs1564421528 | 0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv | 16 | |||
rs1057524157 | 0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv | 19 | |||
rs1554944271 | 0.851 | 0.240 | 11 | 686925 | missense variant | C/G | snv | 14 | |||
rs10830963 | 0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 | 10 | ||
rs11824092 | 0.925 | 0.080 | 11 | 13324747 | intron variant | T/C | snv | 0.62 | 1 | ||
rs1982350 | 11 | 13328584 | intron variant | A/G | snv | 0.57 | 1 | ||||
rs1057524820 | 0.776 | 0.280 | 12 | 51765746 | missense variant | G/A;T | snv | 33 |