Source: ALL
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 | 1 | 235470872 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 1 | 235470857 | missense variant | A/C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1.000 | 1 | 235458753 | missense variant | C/G;T | snv | 4.3E-06; 4.3E-06 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 1 | 235465651 | frameshift variant | -/AA | delins | 1.2E-05; 2.1E-04 | 1.3E-04 | 0.700 | 1.000 | 2 | 2013 | 2017 | ||||
|
1 | 1.000 | 1 | 235465675 | missense variant | C/T | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 1 | 235470849 | splice donor variant | C/T | snv | 4.8E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 1 | 235484429 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 235494772 | missense variant | C/T | snv | 2.6E-04 | 1.7E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 235454244 | frameshift variant | G/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 235470962 | splice acceptor variant | T/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 235504179 | frameshift variant | -/AGCCGCAGCCAGAGGTGCAGCGC | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 235489220 | frameshift variant | CA/- | delins | 0.700 | 0 | |||||||||
|
3 | 0.882 | 0.120 | 1 | 235450286 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 235465715 | splice acceptor variant | C/A;T | snv | 2.4E-05 | 0.700 | 0 |