Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs786205124 | 0.701 | 0.400 | 16 | 4798593 | frameshift variant | G/-;GGG | delins | 3.5E-05 | 35 | ||
rs782661984 | 0.925 | 0.040 | 1 | 145974824 | splice acceptor variant | G/A | snv | 2.3E-05 | 1.4E-05 | 4 | |
rs782515431 | X | 154464026 | missense variant | G/C | snv | 1.1E-05 | 3.8E-05 | 1 | |||
rs782144677 | 1 | 147285398 | frameshift variant | A/- | del | 2.8E-05 | 2.1E-05 | 1 | |||
rs780261665 | 0.827 | 0.200 | 3 | 48590258 | stop gained | G/A | snv | 2.0E-05 | 1.4E-05 | 9 | |
rs778037798 | 3 | 73388079 | non coding transcript exon variant | A/G | snv | 4.9E-05 | 3.5E-05 | 1 | |||
rs776780438 | 19 | 58480401 | stop gained | G/A | snv | 8.1E-06 | 4.9E-05 | 1 | |||
rs776593168 | 1 | 19167086 | missense variant | G/A;C | snv | 1.2E-05; 1.2E-05 | 1 | ||||
rs776274768 | 6 | 117342468 | frameshift variant | T/-;TT | delins | 1 | |||||
rs775707132 | 4 | 8612120 | missense variant | G/A;T | snv | 1.6E-05; 2.0E-05 | 1 | ||||
rs775141057 | 0.882 | 0.120 | 12 | 106496115 | missense variant | C/A;T | snv | 4.0E-06 | 2.1E-05 | 6 | |
rs773956500 | 20 | 62322722 | missense variant | T/C | snv | 4.3E-05 | 2.9E-05 | 1 | |||
rs771829423 | 20 | 35938989 | missense variant | G/A | snv | 1.2E-05 | 1 | ||||
rs771172991 | 20 | 34987284 | splice donor variant | AG/- | delins | 5.6E-05 | 1 | ||||
rs771063992 | 0.827 | 0.240 | 5 | 34937431 | stop gained | C/T | snv | 2.8E-05 | 2.8E-05 | 7 | |
rs770374710 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 87 | |||
rs769603301 | 16 | 72811684 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 | 1 | ||||
rs768564744 | 17 | 78525107 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-05 | 1 | ||||
rs767539150 | 12 | 71656953 | missense variant | C/T | snv | 1.8E-04 | 1.7E-04 | 1 | |||
rs766464011 | 20 | 62333128 | missense variant | G/T | snv | 1.1E-04 | 5.6E-05 | 1 | |||
rs765498367 | 0.925 | X | 110317643 | stop gained | A/G;T | snv | 1.2E-04 | 2.8E-05 | 6 | ||
rs765435034 | 1 | 184694431 | missense variant | C/A | snv | 2.9E-05 | 1 | ||||
rs763505389 | 17 | 78491549 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 1 | |||
rs761960636 | 1 | 19094058 | missense variant | G/T | snv | 3.2E-05 | 1 | ||||
rs761469100 | 12 | 110128960 | missense variant | C/T | snv | 1.2E-05 | 1 |