Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.200 | 16 | 79599715 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | 13 | 20143233 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 13 | 20142823 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 1 | 147908028 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 1 | 147908439 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 21 | 43172198 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 3 | 186539588 | missense variant | AG/TT | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 6 | 10626489 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 6 | 10626564 | frameshift variant | ATCA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 12 | 56451441 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.240 | 11 | 47419927 | intron variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
10 | 0.827 | 0.320 | 2 | 218814186 | missense variant | C/A;T | snv | 8.0E-06; 2.9E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 2 | 208163217 | missense variant | C/T | snv | 3.9E-03 | 2.3E-03 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.200 | 19 | 51380577 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 21 | 43169259 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
14 | 0.807 | 0.240 | 2 | 218814379 | splice acceptor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 17 | 745591 | missense variant | A/C;G | snv | 4.1E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 22 | 25231617 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.851 | 0.240 | 1 | 145916914 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.851 | 0.240 | 1 | 145912346 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 3 | 111122207 | missense variant | A/C;G | snv | 1.9E-03 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.360 | 2 | 135164629 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.400 | 2 | 216423668 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.360 | X | 134393952 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.320 | 6 | 30723724 | missense variant | C/T | snv | 0.700 | 0 |