Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555955296 | 0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv | 17 | |||
rs1034395178 | 0.716 | 0.480 | 22 | 20996071 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 33 | ||
rs1569355102 | 0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins | 51 | |||
rs1294950721 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 27 | ||
rs1060505041 | 0.716 | 0.400 | 19 | 13136099 | missense variant | C/A;T | snv | 34 | |||
rs1555743003 | 0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv | 58 | |||
rs779027563 | 0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 58 | |
rs1307997067 | 0.851 | 0.320 | 17 | 3664199 | missense variant | A/C;G | snv | 4.0E-06 | 7.0E-06 | 7 | |
rs387907145 | 0.695 | 0.440 | 16 | 4800548 | stop gained | G/A | snv | 36 | |||
rs786205124 | 0.701 | 0.400 | 16 | 4798593 | frameshift variant | G/-;GGG | delins | 3.5E-05 | 35 | ||
rs879253753 | 0.851 | 0.280 | 16 | 89280526 | frameshift variant | -/T | delins | 19 | |||
rs1565679039 | 0.701 | 0.400 | 12 | 47983399 | stop gained | T/A | snv | 45 | |||
rs142239530 | 0.790 | 0.320 | 11 | 4091328 | missense variant | C/G;T | snv | 4.4E-05 | 24 | ||
rs1554700718 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 59 | |||
rs1554888939 | 0.683 | 0.640 | 9 | 137798823 | missense variant | G/T | snv | 58 | |||
rs759191907 | 0.776 | 0.360 | 9 | 127825225 | splice region variant | A/G | snv | 8.0E-06 | 25 | ||
rs386834055 | 0.925 | 0.320 | 8 | 99853469 | frameshift variant | -/A | delins | 9 | |||
rs61750420 | 0.689 | 0.480 | 7 | 92501562 | missense variant | C/T | snv | 3.2E-04 | 3.5E-04 | 52 | |
rs61753219 | 0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 | 64 | |
rs1010184002 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 60 | ||
rs1554121443 | 0.742 | 0.280 | 6 | 33438873 | stop gained | C/T | snv | 29 | |||
rs1554196416 | 0.851 | 0.200 | 6 | 78958551 | stop gained | G/A | snv | 15 | |||
rs1561964103 | 0.882 | 0.080 | 6 | 50836108 | frameshift variant | G/- | delins | 7 | |||
rs587779351 | 0.851 | 0.200 | 5 | 83105046 | missense variant | T/C | snv | 1.6E-05 | 6 | ||
rs1553655558 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 43 |