Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs119473033 | 0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 | 11 | |
rs189150283 | 0.925 | 22 | 20992304 | stop gained | C/T | snv | 6.0E-05 | 7.0E-05 | 3 | ||
rs139632595 | 0.807 | 0.160 | 4 | 121801465 | missense variant | T/C | snv | 6.0E-05 | 2.5E-04 | 19 | |
rs373730800 | 0.925 | 7 | 66995320 | missense variant | T/C;G | snv | 6.0E-05 | 4 | |||
rs377035972 | 14 | 24155679 | missense variant | G/A | snv | 5.6E-05 | 9.8E-05 | 1 | |||
rs149830411 | 0.827 | 0.360 | 17 | 46171276 | stop gained | G/A | snv | 5.2E-05 | 5.6E-05 | 15 | |
rs778037798 | 3 | 73388079 | non coding transcript exon variant | A/G | snv | 4.9E-05 | 3.5E-05 | 1 | |||
rs142239530 | 0.790 | 0.320 | 11 | 4091328 | missense variant | C/G;T | snv | 4.4E-05 | 24 | ||
rs773956500 | 20 | 62322722 | missense variant | T/C | snv | 4.3E-05 | 2.9E-05 | 1 | |||
rs768564744 | 17 | 78525107 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-05 | 1 | ||||
rs150300426 | 3 | 49014077 | missense variant | G/A | snv | 3.6E-05 | 1.4E-05 | 1 | |||
rs201306926 | 4 | 140399004 | missense variant | T/C | snv | 3.6E-05 | 7.0E-06 | 1 | |||
rs137854544 | 0.827 | 0.320 | 20 | 45894040 | missense variant | T/A | snv | 3.6E-05 | 4.9E-05 | 10 | |
rs61753219 | 0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 | 64 | |
rs761960636 | 1 | 19094058 | missense variant | G/T | snv | 3.2E-05 | 1 | ||||
rs765435034 | 1 | 184694431 | missense variant | C/A | snv | 2.9E-05 | 1 | ||||
rs375633720 | 4 | 8601494 | missense variant | C/T | snv | 2.8E-05 | 4.2E-05 | 1 | |||
rs748106387 | 0.851 | 0.240 | 2 | 216415427 | stop gained | C/A;T | snv | 2.8E-05 | 9 | ||
rs559788899 | 1 | 29303909 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 | 1 | |||
rs771063992 | 0.827 | 0.240 | 5 | 34937431 | stop gained | C/T | snv | 2.8E-05 | 2.8E-05 | 7 | |
rs782144677 | 1 | 147285398 | frameshift variant | A/- | del | 2.8E-05 | 2.1E-05 | 1 | |||
rs747141054 | 8 | 42973316 | missense variant | G/A | snv | 2.4E-05 | 4.9E-05 | 1 | |||
rs201805961 | 20 | 25292483 | missense variant | A/G | snv | 2.4E-05 | 2.1E-05 | 1 | |||
rs782661984 | 0.925 | 0.040 | 1 | 145974824 | splice acceptor variant | G/A | snv | 2.3E-05 | 1.4E-05 | 4 | |
rs775707132 | 4 | 8612120 | missense variant | G/A;T | snv | 1.6E-05; 2.0E-05 | 1 |