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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.763 | 0.200 | 11 | 32392020 | missense variant | G/A | snv | 0.710 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.200 | 16 | 2117806 | missense variant | C/T | snv | 2.7E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.200 | 11 | 32391998 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.200 | 11 | 32396400 | missense variant | C/T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.200 | 11 | 32428031 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 32392704 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 32392013 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 32392019 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 32396313 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 32392723 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 32392682 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 11 | 32434889 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 32392014 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 32392672 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.240 | 7 | 131506292 | missense variant | G/A | snv | 2.8E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
7 | 0.790 | 0.280 | 11 | 32391967 | splice region variant | C/T | snv | 0.700 | 1.000 | 5 | 1992 | 2013 | |||||
|
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 | |||||
|
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 | ||||||||
|
8 | 0.776 | 0.320 | 11 | 32392717 | stop gained | G/A | snv | 0.700 | 0 |