Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555919960 | 1.000 | 0.040 | X | 40074947 | frameshift variant | -/GT | ins | 1 | |||
rs1555913337 | 1.000 | 0.040 | X | 40054273 | frameshift variant | TAGAAGTCCCAAGTGC/- | del | 1 | |||
rs1554728034 | 1.000 | 0.040 | 9 | 136505844 | frameshift variant | ACGAGCGT/- | delins | 1 | |||
rs104894229 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 52 | |||
rs104894230 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 36 | |||
rs397516436 | 0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv | 26 | |||
rs587778720 | 0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 | 25 | ||
rs28934874 | 0.695 | 0.480 | 17 | 7675161 | missense variant | G/A;C;T | snv | 21 | |||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 19 | ||
rs121913500 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 18 | ||
rs121913499 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 16 | |||
rs1057519895 | 0.724 | 0.240 | 4 | 152328232 | missense variant | C/A;G;T | snv | 14 | |||
rs121913283 | 0.724 | 0.440 | 3 | 179234286 | missense variant | G/A;T | snv | 4.0E-06 | 14 | ||
rs867384286 | 0.732 | 0.240 | 4 | 152328233 | missense variant | G/A;C | snv | 4.3E-06 | 14 | ||
rs398124146 | 0.742 | 0.360 | 16 | 3738617 | missense variant | G/A;C | snv | 12 | |||
rs1057519884 | 0.752 | 0.240 | 16 | 3738616 | missense variant | C/A;T | snv | 11 | |||
rs1057519936 | 0.776 | 0.200 | 3 | 179234284 | missense variant | A/G;T | snv | 11 | |||
rs1057519937 | 0.776 | 0.200 | 3 | 179234285 | missense variant | T/C | snv | 11 | |||
rs121913272 | 0.752 | 0.400 | 3 | 179210192 | missense variant | T/C;G | snv | 11 | |||
rs121913530 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 11 | |||
rs1057519938 | 0.776 | 0.160 | 3 | 179203764 | missense variant | A/C;T | snv | 10 | |||
rs1057519939 | 0.776 | 0.160 | 3 | 179203763 | missense variant | A/C | snv | 10 | |||
rs121913284 | 0.776 | 0.160 | 3 | 179203765 | missense variant | T/A;G | snv | 10 | |||
rs1057519961 | 0.851 | 0.240 | 2 | 197402759 | missense variant | C/T | snv | 4 | |||
rs775623976 | 0.851 | 0.240 | 2 | 197402760 | missense variant | G/A;C | snv | 4.0E-06 | 4 |