Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs137852584 | 0.925 | 0.080 | X | 67711459 | missense variant | G/A | snv | 2 | |||
rs139756052 | 0.925 | 0.080 | X | 67643314 | missense variant | A/T | snv | 1.3E-04 | 5.6E-04 | 2 | |
rs17302090 | 0.925 | 0.080 | X | 67535561 | downstream gene variant | G/A | snv | 8.5E-02 | 2 | ||
rs2315123 | 0.925 | 0.080 | X | 154156372 | missense variant | T/C;G | snv | 5.5E-06 | 2 | ||
rs2405942 | 0.925 | 0.080 | X | 9846095 | intron variant | G/A | snv | 2 | |||
rs5945372 | 0.925 | 0.080 | X | 153400456 | intron variant | A/C;T | snv | 2 | |||
rs777787518 | 0.925 | 0.080 | X | 67545298 | missense variant | G/A | snv | 2 | |||
rs138454018 | 1.000 | 0.080 | X | 67546171 | missense variant | C/A;T | snv | 4.4E-05; 4.9E-05 | 1 | ||
rs1419040 | 1.000 | 0.080 | X | 51609183 | intergenic variant | G/A | snv | 1 | |||
rs4604628 | 1.000 | 0.080 | X | 51644318 | intergenic variant | C/G;T | snv | 1 | |||
rs5991735 | 1.000 | 0.080 | X | 51809788 | intron variant | G/A;C | snv | 1 | |||
rs78686797 | 1.000 | 0.080 | X | 67545316 | missense variant | T/A | snv | 1.1E-03 | 1 | ||
rs868669253 | 1.000 | 0.080 | X | 67711405 | missense variant | G/A;T | snv | 1 | |||
rs985081 | 1.000 | 0.080 | X | 149456568 | intergenic variant | T/C | snv | 0.14 | 1 | ||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs17879961 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 53 | ||
rs555607708 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 33 | |
rs1445081098 | 0.724 | 0.480 | 22 | 19963746 | missense variant | G/C | snv | 4.0E-06 | 17 | ||
rs137853011 | 0.763 | 0.280 | 22 | 28695219 | missense variant | G/A | snv | 4.9E-04 | 2.6E-04 | 16 | |
rs778212685 | 0.827 | 0.120 | 22 | 28712015 | missense variant | C/A;G;T | snv | 4.0E-06 | 8 | ||
rs121908698 | 0.851 | 0.200 | 22 | 28725242 | splice donor variant | C/A;T | snv | 4.0E-06; 1.3E-04 | 7 | ||
rs72552322 | 0.925 | 0.120 | 22 | 28725070 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 7 | |
rs730881701 | 0.827 | 0.200 | 22 | 28725278 | stop gained | G/A;C | snv | 2.4E-05 | 7.0E-06 | 6 | |
rs1534891 | 0.827 | 0.200 | 22 | 38299094 | intron variant | T/C | snv | 0.90 | 5 | ||
rs200917541 | 0.851 | 0.200 | 22 | 28725270 | stop gained | G/A;T | snv | 5 |