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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 2 | 219058688 | non coding transcript exon variant | -/AAG | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.050 | 1.000 | 5 | 2008 | 2016 | |||||
|
4 | 0.882 | 0.160 | 5 | 113071088 | splice donor variant | -/CGCACTGTCTTCCT;CGCGCTGTCTTCCT;CGTGCTGTCTTCCT | delins | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
26 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.851 | 0.040 | 17 | 7673750 | frameshift variant | -/TTTCCGCCGG | delins | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 14 | 35405503 | upstream gene variant | A/- | delins | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.120 | 19 | 17881961 | missense variant | A/C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
3 | 0.925 | 0.080 | 10 | 127064415 | intron variant | A/C | snv | 0.92 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.080 | 6 | 10874672 | missense variant | A/C | snv | 9.1E-03 | 8.6E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
21 | 0.716 | 0.120 | 17 | 7675097 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
25 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 0.907 | 43 | 2003 | 2019 | ||||
|
14 | 0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2019 | |||||
|
23 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
7 | 0.851 | 0.160 | 22 | 41667677 | downstream gene variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.827 | 0.120 | 12 | 47884227 | intron variant | A/C;G;T | snv | 0.60 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
21 | 0.695 | 0.480 | 16 | 28503907 | missense variant | A/C;T | snv | 6.4E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
38 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
14 | 0.742 | 0.320 | 12 | 80935757 | non coding transcript exon variant | A/C;T | snv | 0.83 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 22 | 21833371 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
25 | 0.695 | 0.320 | 17 | 30117165 | 5 prime UTR variant | A/C;T | snv | 0.50; 3.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
12 | 0.776 | 0.360 | 4 | 87983190 | 3 prime UTR variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.875 | 16 | 2001 | 2014 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.030 | 1.000 | 3 | 2011 | 2014 |