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 | 0.120 | 7 | 96191189 | stop gained | G/A;T | snv | 2.8E-05; 4.0E-06 | 0.710 | 1.000 | 2 | 1999 | 2006 | ||||
|
3 | 0.882 | 0.120 | 7 | 96193032 | splice region variant | C/T | snv | 1.1E-04 | 2.8E-05 | 0.700 | 1.000 | 8 | 2003 | 2014 | |||
|
3 | 0.882 | 0.120 | 7 | 96189372 | frameshift variant | ATAC/- | delins | 0.700 | 1.000 | 6 | 1999 | 2011 | |||||
|
3 | 0.882 | 0.120 | 7 | 96184276 | splice donor variant | C/T | snv | 4.8E-05 | 1.4E-05 | 0.700 | 1.000 | 4 | 1999 | 2014 | |||
|
2 | 0.925 | 0.120 | 7 | 96208837 | splice donor variant | C/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 7 | 96321942 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 96193102 | stop gained | G/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 7 | 96193036 | splice donor variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 96184376 | stop gained | G/A | snv | 5.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 7 | 96170044 | splice donor variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 7 | 96121997 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 7 | 96121928 | frameshift variant | -/CCCGGGCAGCCACCTGTAATCTC | delins | 8.8E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 7 | 96121696 | stop gained | -/T;TTT | delins | 2.8E-05; 2.4E-05; 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 7 | 96121695 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 96121683 | stop gained | G/A | snv | 6.0E-05 | 2.1E-05 | 0.700 | 0 |