Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1024708183 | 0.925 | 0.040 | 19 | 7909761 | missense variant | A/G | snv | 4 | |||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 | |||
rs1057520007 | 0.701 | 0.440 | 17 | 7674917 | missense variant | T/A;C;G | snv | 21 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs1131691041 | 17 | 7676271 | frameshift variant | -/A | delins | 3 | |||||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 59 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs121965059 | 0.925 | 0.080 | 10 | 124403892 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 4 | |
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs1372047743 | 8 | 47960120 | missense variant | C/T | snv | 9.7E-06 | 3 | ||||
rs1383997 | 8 | 72005483 | intron variant | T/C | snv | 0.58 | 1 | ||||
rs1395746092 | 19 | 43575449 | missense variant | T/C | snv | 7.0E-06 | 1 | ||||
rs1431381385 | 3 | 14167204 | missense variant | G/A | snv | 4.1E-06 | 1.4E-05 | 1 | |||
rs1470755915 | 0.776 | 0.240 | 8 | 92005229 | missense variant | C/A | snv | 7.0E-06 | 10 | ||
rs1486253194 | 3 | 14146063 | frameshift variant | CCAGTATCCTGGCC/- | del | 7.0E-06 | 1 | ||||
rs150547487 | 16 | 3597425 | missense variant | T/C | snv | 9.9E-04 | 4.1E-03 | 1 | |||
rs17655 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 52 | |
rs1800566 | 0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 | 59 | |
rs2228001 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 60 | |
rs2232365 | 0.716 | 0.480 | X | 49259429 | intron variant | T/C | snv | 16 |