Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs17847577 | 0.925 | 0.120 | 8 | 31081132 | stop gained | C/T | snv | 1.7E-04 | 3.2E-04 | 2 | |
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs28934576 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 78 | ||
rs11540652 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 57 | ||
rs121912651 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 53 | ||
rs121913343 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 44 | ||
rs138729528 | 0.677 | 0.480 | 17 | 7675089 | missense variant | G/A;C | snv | 1.6E-05 | 25 | ||
rs121912657 | 0.683 | 0.480 | 17 | 7673806 | missense variant | C/A;G;T | snv | 4.0E-06 | 24 | ||
rs587782329 | 0.677 | 0.280 | 17 | 7674217 | missense variant | C/A;G;T | snv | 23 | |||
rs876660333 | 0.742 | 0.360 | 17 | 7673805 | missense variant | A/C;G;T | snv | 13 | |||
rs1564654588 | 0.925 | 0.160 | 10 | 102504327 | stop gained | A/T | snv | 2 | |||
rs28942088 | 1.000 | 0.040 | 10 | 102504196 | missense variant | C/T | snv | 1 | |||
rs587776578 | 0.882 | 0.160 | 10 | 102599545 | splice donor variant | G/A;C | snv | 3 | |||
rs1060501105 | 0.925 | 0.160 | 10 | 102615266 | splice acceptor variant | A/T | snv | 2 | |||
rs1060501108 | 0.925 | 0.160 | 10 | 102549993 | frameshift variant | G/- | del | 2 | |||
rs1060501109 | 0.925 | 0.160 | 10 | 102550088 | stop gained | C/T | snv | 1.4E-05 | 2 | ||
rs1477199832 | 0.925 | 0.160 | 10 | 102597223 | frameshift variant | -/C | delins | 2 | |||
rs1554841447 | 0.925 | 0.160 | 10 | 102509168 | splice acceptor variant | G/A | snv | 2 | |||
rs1554852279 | 0.925 | 0.160 | 10 | 102592711 | frameshift variant | -/TA | delins | 2 | |||
rs1564676479 | 0.925 | 0.160 | 10 | 102550107 | splice donor variant | G/A | snv | 2 | |||
rs1564698683 | 0.925 | 0.160 | 10 | 102597207 | stop gained | G/A | snv | 2 | |||
rs1564698850 | 0.925 | 0.160 | 10 | 102597278 | frameshift variant | -/TGTGT | ins | 2 | |||
rs879255280 | 0.701 | 0.200 | 7 | 129206557 | missense variant | C/T | snv | 22 |