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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
39 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.100 | 0.786 | 14 | 2003 | 2019 | |||
|
22 | 0.689 | 0.400 | 11 | 108223106 | 5 prime UTR variant | G/A | snv | 0.49 | 0.020 | 1.000 | 2 | 2010 | 2018 | ||||
|
12 | 0.763 | 0.320 | 11 | 108329202 | missense variant | T/G | snv | 4.0E-05 | 6.3E-05 | 0.780 | 0.875 | 8 | 1998 | 2016 | |||
|
11 | 0.776 | 0.200 | 11 | 108272729 | missense variant | C/A;G | snv | 1.7E-02 | 0.040 | 1.000 | 4 | 2002 | 2018 | ||||
|
8 | 0.807 | 0.160 | 11 | 108354934 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
8 | 0.807 | 0.160 | 11 | 108272455 | intron variant | C/A;T | snv | 0.65 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.827 | 0.080 | 11 | 108227849 | missense variant | C/G;T | snv | 7.1E-03 | 0.040 | 1.000 | 4 | 2006 | 2010 | ||||
|
6 | 0.827 | 0.120 | 11 | 108283370 | intron variant | G/C | snv | 0.52 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.851 | 0.280 | 11 | 108331498 | missense variant | G/C;T | snv | 2.4E-05 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
5 | 0.851 | 0.320 | 11 | 108335105 | missense variant | T/C | snv | 3.2E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.360 | 11 | 108267258 | stop gained | C/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.360 | 11 | 108253846 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.120 | 11 | 108267276 | missense variant | T/C | snv | 8.7E-03 | 8.5E-03 | 0.020 | 1.000 | 2 | 2004 | 2008 | |||
|
3 | 0.882 | 0.120 | 11 | 108304736 | missense variant | A/T | snv | 4.9E-03 | 4.4E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.882 | 0.080 | 11 | 108251865 | missense variant | C/G | snv | 3.9E-03 | 1.5E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
3 | 0.882 | 0.120 | 11 | 108289005 | missense variant | C/T | snv | 1.2E-02 | 2.2E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.120 | 11 | 108349930 | intron variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.280 | 11 | 108353828 | missense variant | A/G | snv | 2.2E-04 | 1.8E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.882 | 0.280 | 11 | 108312424 | stop gained | G/T | snv | 4.4E-05 | 3.5E-05 | 0.710 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.882 | 0.280 | 11 | 108243994 | stop gained | C/A;T | snv | 4.1E-06; 8.1E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.280 | 11 | 108353881 | splice donor variant | G/A;C;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.280 | 11 | 108317374 | missense variant | C/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.280 | 11 | 108316015 | stop gained | C/A;T | snv | 1.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.320 | 11 | 108331885 | inframe deletion | TAGAATTTC/- | delins | 2.8E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.360 | 11 | 108365208 | stop gained | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 |