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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.080 | 0.875 | 8 | 2009 | 2015 | |||||
|
10 | 0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
26 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||
|
3 | 0.925 | 0.080 | 14 | 35405503 | upstream gene variant | A/- | delins | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.160 | 16 | 68736944 | upstream gene variant | A/- | del | 0.80 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.807 | 0.200 | 3 | 37025648 | frameshift variant | A/- | del | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
4 | 0.851 | 0.120 | 10 | 49542929 | upstream gene variant | A/C | snv | 0.25 | 0.030 | 1.000 | 3 | 2013 | 2017 | ||||
|
2 | 0.925 | 0.080 | 5 | 40765760 | intron variant | A/C | snv | 2.7E-03 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
6 | 0.807 | 0.080 | 13 | 73064505 | intron variant | A/C | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.807 | 0.160 | 12 | 53991163 | intron variant | A/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
23 | 0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.120 | 7 | 30473155 | intron variant | A/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 10 | 127064415 | intron variant | A/C | snv | 0.92 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.120 | 17 | 35003131 | 3 prime UTR variant | A/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.776 | 0.200 | 16 | 13919809 | upstream gene variant | A/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
24 | 0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.080 | 17 | 39651445 | intron variant | A/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 2 | 25345310 | upstream gene variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||
|
7 | 0.790 | 0.280 | 19 | 51746419 | missense variant | A/C;G | snv | 0.32; 0.13 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.742 | 0.240 | 6 | 33208047 | upstream gene variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.827 | 0.080 | 1 | 186674636 | missense variant | A/C;G | snv | 4.0E-06; 7.6E-03 | 1.4E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.790 | 0.160 | 7 | 27202740 | non coding transcript exon variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2019 | 2019 |