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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.090 | 0.889 | 9 | 2005 | 2013 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.080 | 1.000 | 8 | 2005 | 2013 | |||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.020 | 0.500 | 2 | 2013 | 2013 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.020 | 1.000 | 2 | 2004 | 2009 | |||
|
26 | 0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 | 0.020 | 1.000 | 2 | 2001 | 2013 | ||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.851 | 0.160 | 1 | 163076561 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.160 | 1 | 24951491 | intron variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
9 | 0.763 | 0.320 | 1 | 152032679 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 1 | 11796249 | start lost | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.790 | 0.360 | 1 | 11792243 | intron variant | C/G;T | snv | 4.0E-06; 0.26 | 0.23 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.882 | 0.120 | 1 | 109688224 | missense variant | A/G | snv | 3.0E-05 | 3.8E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
8 | 0.807 | 0.160 | 1 | 11262099 | intron variant | A/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 1 | 111766501 | missense variant | C/A;T | snv | 0.12; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.807 | 0.240 | 1 | 173866073 | non coding transcript exon variant | C/T | snv | 0.22 | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
42 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
20 | 0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.120 | 1 | 45330597 | intron variant | G/C | snv | 0.92 | 0.93 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.790 | 0.320 | 1 | 173865494 | non coding transcript exon variant | G/A | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.776 | 0.240 | 1 | 24925432 | intron variant | A/T | snv | 0.42 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.120 | 1 | 150966095 | 3 prime UTR variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.790 | 0.200 | 1 | 226360853 | 3 prime UTR variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.120 | 2 | 233656637 | intron variant | A/C;T | snv | 0.030 | 0.667 | 3 | 2010 | 2015 |