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 | 0.790 | 0.280 | 11 | 32391967 | splice region variant | C/T | snv | 0.700 | 1.000 | 7 | 1992 | 2017 | |||||
|
4 | 0.851 | 0.280 | 11 | 32392032 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 1997 | 2013 | ||||
|
6 | 0.807 | 0.280 | 11 | 32396401 | stop gained | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 1997 | 1997 | ||||
|
4 | 0.851 | 0.280 | 11 | 32396372 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
3 | 0.882 | 0.200 | 11 | 32428031 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
11 | 0.763 | 0.200 | 11 | 32392020 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.320 | 11 | 32392717 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.280 | 11 | 32428598 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.280 | 11 | 32434883 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.280 | 11 | 32435027 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.280 | 11 | 32434708 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.160 | 11 | 32417631 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 11 | 32392026 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 11 | 32391966 | splice region variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 11 | 32391968 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 32435341 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
2 | 0.925 | 0.200 | 11 | 32430535 | missense variant | T/C | snv | 4.2E-06 | 7.1E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 |