Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1481733213 | 0.851 | 0.240 | 3 | 142568059 | splice region variant | T/C | snv | 5 | |||
rs1553761113 | 0.851 | 0.240 | 3 | 142507967 | missense variant | C/A | snv | 5 | |||
rs797045954 | 0.851 | 0.160 | 1 | 149923568 | frameshift variant | TCGAGGGGGAACTGGTGGCC/- | delins | 5 | |||
rs104894578 | 0.807 | 0.280 | 17 | 70175691 | missense variant | C/T | snv | 6 | |||
rs730882245 | 0.827 | 0.160 | 4 | 122207168 | stop gained | T/A | snv | 6 | |||
rs1057519381 | 0.851 | 0.240 | X | 71124276 | missense variant | G/A | snv | 6 | |||
rs1553370918 | 0.851 | 0.360 | 2 | 15945602 | frameshift variant | TG/- | delins | 6 | |||
rs1555398673 | 0.807 | 0.200 | 15 | 48488433 | missense variant | A/G | snv | 7 | |||
rs1057518681 | 0.827 | 0.200 | 8 | 143816821 | splice acceptor variant | T/C | snv | 7 | |||
rs1553538917 | 0.882 | 0.120 | 2 | 199272423 | stop gained | G/A | snv | 7 | |||
rs431905509 | 0.807 | 0.280 | 22 | 19176222 | missense variant | G/A;C | snv | 2.0E-05 | 8 | ||
rs397515789 | 0.776 | 0.240 | 15 | 48488112 | splice donor variant | C/A;T | snv | 10 | |||
rs1135402761 | 0.827 | 0.320 | 12 | 79448958 | missense variant | T/C | snv | 11 | |||
rs753317536 | 0.790 | 0.160 | 4 | 5719239 | intron variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 12 | ||
rs1569309484 | 0.807 | 0.200 | X | 74591586 | missense variant | A/G | snv | 13 | |||
rs121908425 | 0.763 | 0.160 | 4 | 5748226 | stop gained | C/A;T | snv | 3.2E-05; 1.2E-05 | 14 | ||
rs61752129 | 0.776 | 0.240 | 22 | 18078405 | frameshift variant | C/-;CC | delins | 14 | |||
rs1057518914 | 0.790 | 0.160 | X | 20193547 | missense variant | G/C | snv | 14 | |||
rs875989803 | 0.827 | 0.200 | X | 41343249 | stop gained | G/T | snv | 15 | |||
rs1555639076 | 0.790 | 0.400 | 17 | 67893677 | splice donor variant | A/- | delins | 16 | |||
rs782736894 | 0.827 | 0.280 | 17 | 67975841 | missense variant | T/C;G | snv | 4.0E-06 | 7.0E-06 | 16 | |
rs1555565774 | 0.807 | 0.360 | 17 | 44862753 | frameshift variant | G/- | delins | 16 | |||
rs1563686762 | 0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins | 16 | |||
rs398122394 | 0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv | 17 | |||
rs797045412 | 0.776 | 0.280 | 9 | 92718565 | missense variant | G/A;T | snv | 17 |