Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs746800707 | 0.851 | 0.160 | 20 | 36240388 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 | 8 | ||
rs1060499548 | 0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv | 27 | |||
rs1554699491 | 0.763 | 0.280 | 9 | 85596450 | splice acceptor variant | C/A | snv | 23 | |||
rs780631499 | 0.763 | 0.280 | 9 | 85588465 | frameshift variant | G/- | del | 4.0E-06 | 7.0E-06 | 23 | |
rs863225045 | 0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv | 15 | |||
rs369160589 | 0.742 | 0.400 | 16 | 5082676 | splice region variant | A/G | snv | 1.0E-04 | 1.3E-04 | 35 | |
rs1009298200 | 0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 | 34 | ||
rs1555452127 | 0.742 | 0.400 | 16 | 5079078 | missense variant | T/C | snv | 34 | |||
rs1569508922 | 0.882 | 0.160 | X | 111681268 | missense variant | T/A | snv | 5 | |||
rs1560162116 | 0.882 | 0.080 | 3 | 184242930 | missense variant | T/C | snv | 5 | |||
rs1560164682 | 0.882 | 0.080 | 3 | 184245709 | splice region variant | T/C | snv | 5 | |||
rs794727931 | 0.790 | 0.240 | 11 | 78112692 | missense variant | A/C | snv | 19 | |||
rs201785518 | 1.000 | 12 | 132729818 | stop gained | G/A | snv | 5.6E-05 | 1.4E-05 | 2 | ||
rs863225465 | 1.000 | 12 | 132734559 | missense variant | G/C | snv | 2 | ||||
rs587779388 | 1.000 | 1 | 113898755 | frameshift variant | GT/- | delins | 1.4E-04 | 1.5E-04 | 5 | ||
rs730882249 | 0.882 | 0.120 | 7 | 100105981 | stop gained | C/T | snv | 4.0E-06 | 6 | ||
rs375761808 | 0.925 | 0.160 | 1 | 26775673 | missense variant | A/G;T | snv | 4.0E-06 | 6 | ||
rs730882201 | 1.000 | 11 | 30336665 | missense variant | G/A | snv | 4 | ||||
rs948326794 | 1.000 | 7 | 97854653 | stop gained | C/A;G | snv | 1.4E-05 | 2 | |||
rs199422173 | 0.827 | 0.120 | 1 | 197101468 | frameshift variant | CT/- | delins | 2.3E-04 | 1.7E-04 | 7 | |
rs1064795945 | 1.000 | 0.120 | 1 | 197102332 | frameshift variant | AAGT/- | delins | 5 | |||
rs199422146 | 1.000 | 0.120 | 1 | 197142522 | frameshift variant | CT/- | delins | 7.0E-06 | 2 | ||
rs1060499757 | 1 | 197101677 | frameshift variant | CT/- | delins | 1 | |||||
rs1060499758 | 1 | 197094079 | splice region variant | C/T | snv | 1 | |||||
rs886043994 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 21 |