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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.200 | 17 | 45996638 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
23 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
6 | 0.827 | 0.120 | 17 | 44352404 | stop gained | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.020 | 1.000 | 2 | 2007 | 2008 | |||
|
7 | 0.807 | 0.200 | 17 | 30237299 | upstream gene variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
5 | 0.827 | 0.160 | 3 | 87253472 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.851 | 0.160 | 17 | 44351586 | missense variant | G/A;C | snv | 8.4E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.160 | 17 | 44350481 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
10 | 0.763 | 0.280 | 12 | 117330794 | synonymous variant | G/A | snv | 2.8E-05 | 4.2E-05 | 0.020 | 1.000 | 2 | 2008 | 2009 | |||
|
4 | 0.882 | 0.200 | 17 | 34320812 | missense variant | A/C | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.120 | 12 | 17567834 | intron variant | G/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.776 | 0.200 | 9 | 35065351 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 3 | 182964065 | intron variant | T/C | snv | 0.56 | 0.48 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 0.807 | 0.360 | 12 | 117268082 | synonymous variant | C/A;T | snv | 4.0E-06; 5.6E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 16 | 31183958 | synonymous variant | C/T | snv | 0.53 | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.160 | 9 | 34256349 | synonymous variant | C/T | snv | 0.40 | 0.34 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.120 | 9 | 34306412 | stop gained | C/A;T | snv | 0.16; 4.1E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
25 | 0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 16 | 31182621 | synonymous variant | C/A;G;T | snv | 0.32; 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 16 | 31185175 | missense variant | A/G | snv | 8.4E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
4 | 0.882 | 0.160 | 17 | 44349190 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 9 | 33256181 | intron variant | T/G | snv | 0.39 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 12 | 54284196 | intron variant | C/T | snv | 0.76 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 11 | 27701003 | 5 prime UTR variant | G/C | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 |