Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs4420638 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 43 | ||
rs1564045331 | 0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins | 35 | |||
rs727502818 | 0.790 | 0.160 | 11 | 17772053 | missense variant | G/A | snv | 26 | |||
rs57095329 | 0.677 | 0.480 | 5 | 160467840 | intron variant | A/G | snv | 7.8E-02 | 25 | ||
rs6721961 | 0.672 | 0.520 | 2 | 177265309 | intron variant | T/C;G | snv | 0.89 | 24 | ||
rs1555939456 | 0.851 | 0.200 | X | 20187956 | missense variant | T/C | snv | 21 | |||
rs4291 | 0.724 | 0.400 | 17 | 63476833 | upstream gene variant | T/A;C | snv | 20 | |||
rs11136000 | 0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 | 19 | ||
rs63750215 | 0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv | 19 | |||
rs1555377415 | 0.827 | 0.200 | 14 | 77027274 | stop gained | G/C | snv | 18 | |||
rs1555454508 | 0.790 | 0.240 | 15 | 44615487 | stop gained | GTA/ATC | mnv | 18 | |||
rs312262717 | 0.790 | 0.240 | 15 | 44659104 | frameshift variant | A/-;AA | delins | 18 | |||
rs63751438 | 0.776 | 0.120 | 17 | 46010388 | missense variant | C/T | snv | 16 | |||
rs1556424691 | 0.851 | 0.200 | MT | 15923 | non coding transcript exon variant | A/G | snv | 13 | |||
rs63751287 | 0.742 | 0.120 | 14 | 73192792 | missense variant | A/G;T | snv | 13 | |||
rs12273363 | 0.807 | 0.120 | 11 | 27723312 | intron variant | T/C | snv | 0.16 | 11 | ||
rs769449 | 0.882 | 0.120 | 19 | 44906745 | non coding transcript exon variant | G/A | snv | 8.4E-02 | 11 | ||
rs17070145 | 0.790 | 0.120 | 5 | 168418786 | intron variant | C/T | snv | 0.43 | 10 | ||
rs1800764 | 0.790 | 0.320 | 17 | 63473168 | upstream gene variant | C/G;T | snv | 10 | |||
rs3764650 | 0.790 | 0.200 | 19 | 1046521 | intron variant | T/G | snv | 0.14 | 9 | ||
rs17518584 | 0.827 | 0.160 | 3 | 85555773 | intron variant | C/T | snv | 0.50 | 8 | ||
rs363050 | 0.790 | 0.240 | 20 | 10253609 | intron variant | G/A | snv | 0.57 | 8 | ||
rs63750522 | 0.827 | 0.120 | 14 | 73173644 | missense variant | G/A;C | snv | 8 | |||
rs10524523 | 0.807 | 0.200 | 19 | 44899792 | intron variant | TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | delins | 7 |