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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.280 | 11 | 32396401 | stop gained | G/A | snv | 1.4E-05 | 0.710 | 1.000 | 2 | 1997 | 2009 | ||||
|
4 | 0.851 | 0.280 | 11 | 32392032 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 1997 | 2013 | ||||
|
5 | 0.882 | 0.240 | 11 | 32428521 | missense variant | G/A;T | snv | 3.9E-04; 2.8E-05 | 0.700 | 1.000 | 4 | 2004 | 2017 | ||||
|
4 | 0.851 | 0.280 | 11 | 32396372 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
7 | 0.790 | 0.280 | 11 | 32391967 | splice region variant | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.200 | 11 | 32428031 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 11 | 32434769 | frameshift variant | C/- | 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 | ||||||||
|
1 | 1.000 | 0.160 | 11 | 32434815 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 11 | 32427961 | inframe deletion | TAG/- | delins | 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 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 32434889 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 11 | 32417633 | frameshift variant | TTTGGTATAAATTGTCA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 11 | 32399967 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
15 | 0.732 | 0.240 | 11 | 32396399 | synonymous variant | T/C | snv | 0.24; 4.0E-06 | 0.17 | 0.100 | 1.000 | 11 | 2011 | 2018 | |||
|
5 | 0.827 | 0.160 | 11 | 32392031 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.200 | 11 | 32435341 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 0.160 | 11 | 32405158 | intron variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
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 | |||
|
3 | 0.882 | 0.160 | 11 | 32389228 | intron variant | A/G | snv | 0.35 | 0.35 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.160 | 11 | 32399987 | synonymous variant | T/C | snv | 1.2E-02 | 4.6E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 |