Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555985372 | 1.000 | X | 100407591 | frameshift variant | -/C | delins | 2 | ||||
rs1158141270 | 0.925 | 13 | 101061967 | splice donor variant | C/A | snv | 4.0E-06 | 3 | |||
rs1555373511 | 13 | 101062119 | splice acceptor variant | C/G | snv | 1 | |||||
rs886039763 | 0.925 | X | 101412604 | missense variant | C/T | snv | 3 | ||||
rs1429181351 | 0.925 | 0.160 | 12 | 101764957 | frameshift variant | TA/- | del | 4.0E-06 | 4 | ||
rs587780564 | 0.882 | 0.080 | 14 | 101986017 | missense variant | C/T | snv | 5 | |||
rs1057518776 | 0.925 | 0.080 | 14 | 101986027 | missense variant | T/A | snv | 4 | |||
rs1555408829 | 1.000 | 14 | 101994794 | missense variant | T/C | snv | 2 | ||||
rs1567010427 | 0.882 | 14 | 102010824 | missense variant | G/A | snv | 11 | ||||
rs866294686 | 0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv | 43 | |||
rs62514895 | 1.000 | 0.120 | 12 | 102917066 | splice region variant | C/A;T | snv | 7.2E-05 | 2 | ||
rs864622194 | 0.925 | 0.080 | X | 103776997 | start lost | T/C;G | snv | 3 | |||
rs1560755661 | 0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins | 44 | |||
rs374319146 | 0.851 | 0.080 | 4 | 106194717 | splice donor variant | C/A;T | snv | 4.3E-06; 8.7E-06 | 6 | ||
rs137852540 | 0.925 | 0.080 | X | 107640936 | missense variant | A/G | snv | 3 | |||
rs1304422857 | 1.000 | 12 | 109511304 | splice donor variant | G/A;T | snv | 3 | ||||
rs377357931 | 1.000 | 0.080 | 6 | 109760253 | stop gained | C/T | snv | 3.6E-05 | 8.4E-05 | 2 | |
rs747768373 | 6 | 109792665 | splice donor variant | G/A | snv | 8.0E-06 | 2.8E-05 | 1 | |||
rs387906905 | 0.882 | 0.120 | 12 | 109798819 | missense variant | C/T | snv | 9 | |||
rs1555302454 | 13 | 110170615 | missense variant | C/T | snv | 1 | |||||
rs1555303010 | 13 | 110176450 | missense variant | C/T | snv | 2 | |||||
rs1064795935 | 1.000 | 13 | 110181389 | missense variant | C/T | snv | 3 | ||||
rs1553689580 | 3 | 11025543 | missense variant | T/C | snv | 1 | |||||
rs794726860 | 0.925 | 3 | 11025786 | missense variant | C/T | snv | 3 | ||||
rs1553690452 | 1.000 | 3 | 11028845 | stop gained | C/T | snv | 2 |