Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519699 | 3 | 179218315 | missense variant | G/A | snv | 2 | |||||
rs1057519740 | 18 | 51065532 | missense variant | C/A | snv | 1 | |||||
rs1057519741 | 18 | 51078417 | missense variant | G/T | snv | 1 | |||||
rs1057519754 | 19 | 40236313 | missense variant | T/C | snv | 1 | |||||
rs1057519760 | 7 | 55160314 | missense variant | A/G | snv | 1 | |||||
rs121913326 | 5 | 112839729 | stop gained | G/T | snv | 1 | |||||
rs121913328 | 5 | 112839693 | stop gained | C/T | snv | 1 | |||||
rs121913329 | 5 | 112839726 | stop gained | C/T | snv | 1 | |||||
rs121913462 | 5 | 112839510 | stop gained | G/A;T | snv | 1 | |||||
rs74535574 | 5 | 112839879 | stop gained | C/A;T | snv | 1 | |||||
rs869312784 | 5 | 112838674 | missense variant | A/G | snv | 1 | |||||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 22 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 2 | |||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 21 | ||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 48 | ||
rs121913500 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 19 | ||
rs1800469 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 10 | ||
rs28934576 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 39 | ||
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 35 | ||
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 | 37 | |||
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 73 | ||
rs6983267 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 13 | ||
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 25 | |||
rs121913530 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 13 |