Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1557106484 | X | 77633315 | missense variant | C/A | snv | 7 | |||||
rs1565329461 | 0.851 | 0.200 | 11 | 103135949 | splice donor variant | G/A | snv | 9 | |||
rs1559662068 | 0.925 | 3 | 9741340 | frameshift variant | AG/T | delins | 10 | ||||
rs876657380 | 0.851 | 0.360 | 6 | 157181155 | frameshift variant | AA/- | delins | 11 | |||
rs180177039 | 0.851 | 0.160 | 7 | 140778006 | missense variant | T/A;C;G | snv | 12 | |||
rs267607079 | 0.776 | 0.240 | 2 | 39022772 | missense variant | C/A;G | snv | 13 | |||
rs1563686762 | 0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins | 16 | |||
rs1553284997 | 0.790 | 0.400 | 1 | 92833544 | splice acceptor variant | G/C | snv | 17 | |||
rs397507531 | 0.752 | 0.320 | 12 | 112473040 | missense variant | T/C;G | snv | 18 | |||
rs387907141 | 0.752 | 0.360 | 6 | 157181137 | stop gained | C/T | snv | 24 | |||
rs77078070 | 0.742 | 0.280 | 7 | 23165737 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 | 26 | |
rs397517148 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 27 | |||
rs66527965 | 0.763 | 0.240 | 17 | 50193038 | missense variant | C/A;T | snv | 31 | |||
rs387907144 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 34 | |||
rs80338796 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 37 | ||
rs1565679039 | 0.701 | 0.400 | 12 | 47983399 | stop gained | T/A | snv | 45 | |||
rs1553621496 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 53 | |||
rs796052505 | 0.724 | 0.440 | 5 | 162095551 | missense variant | G/A;C | snv | 57 | |||
rs1555743003 | 0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv | 58 |