Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs886040738 | 0.851 | 13 | 32363188 | frameshift variant | G/- | delins | 7 | ||||
rs80359030 | 0.851 | 13 | 32363189 | stop gained | G/A;T | snv | 4.0E-06 | 6 | |||
rs267606985 | 1.000 | 12 | 27963693 | missense variant | A/G | snv | 3 | ||||
rs1238684646 | 14 | 95090640 | missense variant | C/G | snv | 4.0E-06 | 2 | ||||
rs1555927374 | 22 | 28725346 | stop gained | C/T | snv | 1 | |||||
rs1057519861 | 0.776 | 0.080 | 7 | 55181398 | missense variant | T/A | snv | 15 | |||
rs121912665 | 1.000 | 0.120 | 17 | 7674965 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 7 | |
rs1057519781 | 0.807 | 0.160 | 2 | 29209816 | missense variant | C/G | snv | 9 | |||
rs267607845 | 0.925 | 0.160 | 3 | 37042267 | splice acceptor variant | G/A;T | snv | 5 | |||
rs934945 | 0.827 | 0.200 | 2 | 238246412 | missense variant | C/T | snv | 0.21 | 0.15 | 10 | |
rs587779340 | 0.882 | 0.200 | 7 | 6003794 | splice acceptor variant | T/A;C;G | snv | 4.1E-06 | 7 | ||
rs121913238 | 0.732 | 0.240 | 12 | 25227343 | missense variant | G/C;T | snv | 17 | |||
rs397517132 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 48 | |||
rs1801260 | 0.695 | 0.280 | 4 | 55435202 | 3 prime UTR variant | A/G | snv | 0.25 | 28 | ||
rs1057519747 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 23 | |||
rs121913412 | 0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv | 19 | |||
rs532480170 | 0.882 | 0.280 | 11 | 108316015 | stop gained | C/A;T | snv | 1.2E-05; 4.0E-06 | 5 | ||
rs762846821 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 57 | ||
rs2853669 | 0.649 | 0.320 | 5 | 1295234 | upstream gene variant | A/G | snv | 0.25 | 35 | ||
rs61764370 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 29 | ||
rs895520 | 0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 | 23 | ||
rs786201675 | 0.925 | 0.320 | 11 | 108282838 | frameshift variant | TTATT/- | delins | 4 | |||
rs121913495 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 28 | |||
rs121913409 | 0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv | 21 | |||
rs121913254 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 31 |