| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.925 | 0.080 | 1 | 151430715 | frameshift variant | -/GATTGGCA | delins | 0.700 | 0 | ||||||||
|
19 | 0.827 | 0.240 | 1 | 11992659 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1 | 19155051 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||||
|
1 | 1 | 228276699 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||||
|
18 | 0.807 | 0.280 | 1 | 8358231 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.040 | 1 | 145977482 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1 | 55073913 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 1 | 24814131 | missense variant | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 1 | 153939040 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 1 | 184717581 | missense variant | A/C | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.040 | 1 | 168104855 | missense variant | A/T | snv | 2.9E-03 | 8.0E-04 | 0.700 | 0 | ||||||
|
1 | 1 | 29325243 | missense variant | A/C | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||||
|
1 | 1 | 39318497 | missense variant | G/A | snv | 2.0E-05 | 0.700 | 0 | |||||||||
|
1 | 1 | 29303909 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 | 0.700 | 0 | ||||||||
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.700 | 0 | |||||||
|
18 | 0.752 | 0.400 | 1 | 155904798 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
15 | 0.776 | 0.360 | 1 | 155904494 | stop gained | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1 | 228279343 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||||
|
1 | 1 | 19119624 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1 | 19151825 | missense variant | T/C | snv | 8.0E-06 | 2.8E-05 | 0.700 | 0 | ||||||||
|
1 | 1 | 39485559 | missense variant | G/A | snv | 1.6E-05 | 0.700 | 0 | |||||||||
|
1 | 1 | 19094058 | missense variant | G/T | snv | 3.2E-05 | 0.700 | 0 | |||||||||
|
1 | 1 | 184694431 | missense variant | C/A | snv | 2.9E-05 | 0.700 | 0 | |||||||||
|
1 | 1 | 19167086 | missense variant | G/A;C | snv | 1.2E-05; 1.2E-05 | 0.700 | 0 | |||||||||
|
1 | 1 | 147285398 | frameshift variant | A/- | del | 2.8E-05 | 2.1E-05 | 0.700 | 0 |