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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.240 | 12 | 88141287 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
8 | 0.776 | 0.280 | 12 | 88120207 | stop gained | G/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
17 | 0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
13 | 0.763 | 0.280 | 12 | 88083936 | stop gained | T/A | snv | 5.5E-05 | 9.1E-05 | 0.700 | 0 | ||||||
|
11 | 0.742 | 0.280 | 12 | 88101183 | intron variant | T/C | snv | 2.8E-04 | 0.700 | 0 | |||||||
|
12 | 0.742 | 0.280 | 12 | 88083161 | stop gained | G/A;T | snv | 7.0E-05 | 0.700 | 0 | |||||||
|
9 | 0.763 | 0.280 | 12 | 88086083 | stop gained | G/A | snv | 1.6E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
5 | 0.827 | 0.280 | 12 | 88079112 | stop gained | G/A;C | snv | 2.6E-05 | 0.700 | 0 | |||||||
|
8 | 0.776 | 0.280 | 12 | 88086038 | splice donor variant | C/T | snv | 5.4E-05 | 9.1E-05 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.240 | 12 | 88062772 | frameshift variant | C/- | del | 4.7E-05; 5.2E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
8 | 0.776 | 0.280 | 12 | 88125357 | stop gained | G/A | snv | 3.8E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
5 | 0.827 | 0.280 | 12 | 88086450 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.280 | 12 | 88125370 | splice acceptor variant | C/T | snv | 1.5E-05 | 0.700 | 0 |