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 | 0.080 | 7 | 95424695 | intron variant | T/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 1.000 | 0.080 | 16 | 2111276 | inframe insertion | -/GTG | ins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 10 | 99797141 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.160 | 10 | 97611535 | missense variant | G/A;T | snv | 2.0E-05; 1.1E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.925 | 0.080 | 4 | 76447694 | intron variant | G/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 10 | 97599780 | missense variant | C/T | snv | 4.4E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.925 | 0.160 | X | 108586717 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 7 | 131509412 | stop gained | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 17 | 63496920 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.120 | 4 | 76181009 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 17 | 45290287 | intron variant | T/C | snv | 0.54 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.120 | 7 | 139715976 | synonymous variant | G/C | snv | 0.27 | 0.37 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
5 | 0.882 | 0.200 | 9 | 132911492 | frameshift variant | -/A;AA | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.240 | 16 | 20348247 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.280 | X | 108586729 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 14 | 104703445 | stop gained | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.080 | 17 | 63477301 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
6 | 0.827 | 0.240 | 7 | 95411704 | missense variant | G/C | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
5 | 0.827 | 0.280 | 1 | 54999325 | missense variant | G/A | snv | 1.0E-04 | 1.5E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
6 | 0.827 | 0.240 | 12 | 88062772 | frameshift variant | C/- | del | 4.7E-05; 5.2E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
8 | 0.827 | 0.160 | X | 13756600 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.280 | 18 | 31595143 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.763 | 0.200 | 2 | 227253336 | missense variant | G/A;T | snv | 2.8E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
15 | 0.763 | 0.240 | 17 | 16948873 | missense variant | A/G | snv | 3.5E-03 | 3.9E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
9 | 0.763 | 0.400 | 2 | 191105394 | intron variant | C/G | snv | 0.77 | 0.010 | 1.000 | 1 | 2013 | 2013 |