Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121908119 | 0.763 | 0.200 | 2 | 218882368 | stop gained | C/A | snv | 6.2E-04 | 8.5E-04 | 10 | |
rs121909231 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 32 | |||
rs121913348 | 0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv | 20 | |||
rs121918166 | 0.925 | 0.160 | 15 | 27985101 | missense variant | C/T | snv | 3.0E-03 | 3.4E-03 | 5 | |
rs121918243 | 0.882 | 0.160 | 1 | 45508848 | missense variant | G/A | snv | 1.7E-04 | 7.7E-05 | 5 | |
rs121918329 | 1.000 | 0.080 | 2 | 190290425 | missense variant | T/C | snv | 6.4E-05 | 1.4E-05 | 2 | |
rs122453113 | 1.000 | 0.120 | X | 153694577 | stop gained | C/T | snv | 2 | |||
rs1241142887 | 1.000 | X | 70445552 | stop gained | T/A;C | snv | 8.3E-06 | 9.4E-06 | 2 | ||
rs1242562412 | 1.000 | 17 | 39687906 | stop gained | C/A | snv | 2.1E-05 | 3 | |||
rs1247427997 | 1.000 | 1 | 165743244 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 4 | |||
rs1248355799 | 1.000 | 19 | 38485770 | frameshift variant | ACTGCGCG/- | del | 1.4E-05 | 2 | |||
rs1255183431 | X | 41344238 | splice acceptor variant | G/C;T | snv | 1 | |||||
rs1264025914 | 1.000 | 0.040 | 17 | 29250301 | splice donor variant | G/A;T | snv | 7.0E-06 | 2 | ||
rs1276519904 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 63 | |||
rs1287121256 | 0.882 | 0.040 | 5 | 150256777 | missense variant | C/G;T | snv | 7.0E-06 | 9 | ||
rs1293033867 | 10 | 117255657 | missense variant | G/C | snv | 1 | |||||
rs1304422857 | 1.000 | 12 | 109511304 | splice donor variant | G/A;T | snv | 3 | ||||
rs1313319892 | 1.000 | 1 | 151406306 | stop gained | G/A;T | snv | 7.0E-06 | 3 | |||
rs1314314373 | 1.000 | 14 | 99176115 | stop gained | G/A;C | snv | 4.1E-06 | 4 | |||
rs1350201776 | 20 | 45952244 | missense variant | C/T | snv | 4.0E-06 | 3 | ||||
rs1352010373 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 73 | |||
rs1366421988 | 1.000 | 8 | 1771146 | missense variant | G/A;T | snv | 4.0E-06 | 2 | |||
rs137852217 | 0.925 | 0.040 | X | 64192215 | stop gained | G/A;T | snv | 1.6E-05 | 4 | ||
rs137852540 | 0.925 | 0.080 | X | 107640936 | missense variant | A/G | snv | 3 | |||
rs137852695 | 0.925 | 0.120 | 1 | 40091398 | missense variant | T/A | snv | 7.0E-04 | 6.0E-04 | 4 |