Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs797044947 | 1.000 | 13 | 110503855 | missense variant | G/A | snv | 7.0E-06 | 2 | |||
rs786205232 | 0.925 | 0.040 | 1 | 110603893 | missense variant | C/T | snv | 4.0E-06 | 3 | ||
rs267607048 | 0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 | 12 | ||
rs398122394 | 0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv | 16 | |||
rs1559759089 | 0.827 | 0.200 | 3 | 113795101 | missense variant | C/A | snv | 14 | |||
rs142209254 | 1 | 113896423 | stop gained | T/A;G | snv | 4.0E-06; 4.0E-06 | 1 | ||||
rs587779388 | 1.000 | 1 | 113898755 | frameshift variant | GT/- | delins | 1.4E-04 | 1.5E-04 | 5 | ||
rs149705131 | 1 | 113901236 | missense variant | C/T | snv | 1.6E-05 | 1 | ||||
rs1553259463 | 1.000 | 1 | 113901815 | stop gained | GACAT/- | delins | 2 | ||||
rs1555721837 | 1.000 | 19 | 11423933 | stop gained | G/A | snv | 2 | ||||
rs782397980 | 1.000 | 13 | 114325331 | stop gained | C/G;T | snv | 1.2E-05 | 2 | |||
rs1555379911 | 1.000 | 13 | 114325794 | stop gained | C/G | snv | 2 | ||||
rs1554412300 | 7 | 114534645 | stop gained | T/G | snv | 1 | |||||
rs886040971 | 0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv | 56 | |||
rs1555239936 | 12 | 115963489 | stop gained | G/A | snv | 1 | |||||
rs1555247469 | 1.000 | 12 | 116006413 | splice acceptor variant | T/C | snv | 2 | ||||
rs1555248020 | 1.000 | 12 | 116009052 | stop gained | G/C | snv | 3 | ||||
rs1431337923 | 10 | 117255595 | splice region variant | AG/- | delins | 4.0E-06 | 1 | ||||
rs1293033867 | 10 | 117255657 | missense variant | G/C | snv | 1 | |||||
rs1555907215 | 1.000 | X | 11768608 | frameshift variant | C/- | delins | 2 | ||||
rs1555036394 | 1.000 | 11 | 118473352 | frameshift variant | A/- | del | 2 | ||||
rs1555036436 | 1.000 | 11 | 118473420 | frameshift variant | C/- | delins | 2 | ||||
rs782297546 | 0.925 | 0.240 | 11 | 118473471 | frameshift variant | C/-;CC | delins | 5 | |||
rs1555039242 | 1.000 | 11 | 118481728 | frameshift variant | GA/- | delins | 2 | ||||
rs886041896 | 1.000 | 11 | 118494360 | stop gained | A/T | snv | 2 |