Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587782703 | 0.807 | 0.160 | 1 | 17053947 | splice donor variant | C/A;T | snv | 1.2E-05; 4.1E-06 | 8 | ||
rs1057519919 | 0.851 | 0.160 | 2 | 15942195 | missense variant | C/T | snv | 5 | |||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 45 | ||
rs121913281 | 0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv | 37 | |||
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 34 | ||
rs121913274 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 28 | |||
rs121913275 | 0.672 | 0.320 | 3 | 179218305 | missense variant | G/A;C;T | snv | 4.0E-06 | 25 | ||
rs1057519932 | 0.683 | 0.320 | 3 | 179234298 | missense variant | T/G | snv | 22 | |||
rs121913400 | 0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv | 17 | |||
rs121913283 | 0.724 | 0.440 | 3 | 179234286 | missense variant | G/A;T | snv | 4.0E-06 | 14 | ||
rs587777790 | 0.732 | 0.280 | 3 | 179199690 | missense variant | G/A | snv | 12 | |||
rs1057519886 | 0.752 | 0.240 | 3 | 41224609 | missense variant | T/A;C;G | 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 | |||
rs121913412 | 0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv | 10 | |||
rs121913413 | 0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv | 9 | |||
rs587778883 | 0.807 | 0.200 | 3 | 37025648 | frameshift variant | A/- | del | 1 | |||
rs876658923 | 1.000 | 0.120 | 3 | 36993593 | frameshift variant | TGAACCG/- | delins | 1 | |||
rs17107315 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 2 | |
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 9 | |
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 8 | |
rs202003805 | 0.827 | 0.120 | 7 | 142750561 | missense variant | C/T | snv | 9.0E-05 | 1 | ||
rs1057519883 | 0.742 | 0.280 | 9 | 21971120 | missense variant | C/G;T | snv | 11 | |||
rs34968276 | 0.776 | 0.240 | 9 | 21971110 | stop gained | G/A;C;T | snv | 9 | |||
rs1057519881 | 0.776 | 0.240 | 9 | 21971111 | missense variant | T/C | snv | 8 |