Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs398122853 | 0.882 | 0.160 | X | 33211304 | stop gained | C/T | snv | 3 | |||
rs1557300135 | 1.000 | 0.120 | X | 33211294 | frameshift variant | C/- | del | 1 | |||
rs398123923 | 0.925 | 0.160 | X | 33211281 | splice donor variant | C/A;G | snv | 2 | |||
rs1060502652 | 1.000 | 0.120 | X | 33020191 | frameshift variant | CT/- | delins | 1 | |||
rs886042604 | 1.000 | 0.120 | X | 33020138 | splice donor variant | C/G;T | snv | 3 | |||
rs1557084128 | 1.000 | 0.120 | X | 32849760 | frameshift variant | -/T | delins | 1 | |||
rs1557079469 | 1.000 | 0.120 | X | 32844808 | frameshift variant | -/C | delins | 1 | |||
rs1557058308 | 1.000 | 0.120 | X | 32823296 | frameshift variant | T/- | del | 1 | |||
rs128626235 | 0.925 | 0.160 | X | 32816565 | stop gained | G/A;T | snv | 5.5E-06 | 2 | ||
rs1569528101 | 0.925 | 0.160 | X | 32816514 | inframe deletion | GTG/- | delins | 2 | |||
rs1569526579 | 0.925 | 0.160 | X | 32809612 | splice acceptor variant | C/G | snv | 2 | |||
rs1340365803 | 1.000 | 0.120 | X | 32809553 | stop gained | C/A;T | snv | 9.5E-06 | 1 | ||
rs1557047827 | 0.925 | 0.120 | X | 32809512 | frameshift variant | C/- | del | 2 | |||
rs1556930839 | 1.000 | 0.120 | X | 32699286 | frameshift variant | -/T | delins | 1 | |||
rs1556930769 | 1.000 | 0.120 | X | 32699257 | stop gained | A/C | snv | 1 | |||
rs1239018406 | 1.000 | 0.120 | X | 32699111 | splice donor variant | C/A;T | snv | 1 | |||
rs72470513 | 1.000 | 0.120 | X | 32698013 | intron variant | T/C | snv | 1 | |||
rs1556929259 | 1.000 | 0.120 | X | 32697972 | stop gained | -/T | delins | 1 | |||
rs398124099 | 1.000 | 0.120 | X | 32650983 | intron variant | G/A | snv | 1 | |||
rs1060502644 | 1.000 | 0.120 | X | 32645052 | stop gained | C/T | snv | 1 | |||
rs1556876346 | 1.000 | 0.120 | X | 32645038 | stop gained | C/A | snv | 1 | |||
rs794726993 | 0.882 | 0.160 | X | 32645020 | stop gained | G/A;C | snv | 3 | |||
rs1060502634 | 1.000 | 0.120 | X | 32644963 | splice donor variant | C/T | snv | 1 | |||
rs398123852 | 1.000 | 0.120 | X | 32644202 | stop gained | G/A;C | snv | 5.5E-06 | 1 | ||
rs1556875224 | 1.000 | 0.120 | X | 32644171 | stop gained | C/T | snv | 1 |