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 | 0.100 | 0.950 | 40 | 1997 | 2016 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.100 | 1.000 | 11 | 1999 | 2016 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.090 | 0.889 | 9 | 2002 | 2017 | |||||
|
41 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.050 | 0.800 | 5 | 2003 | 2009 | ||||
|
47 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 0.050 | 0.800 | 5 | 2003 | 2009 | |||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.040 | 1.000 | 4 | 2006 | 2011 | |||
|
18 | 0.732 | 0.360 | 1 | 55063514 | missense variant | G/A | snv | 0.95 | 0.90 | 0.040 | 0.750 | 4 | 2005 | 2015 | |||
|
11 | 0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 | 0.030 | 1.000 | 3 | 2011 | 2013 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.030 | 1.000 | 3 | 2012 | 2018 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.030 | 1.000 | 3 | 2001 | 2005 | |||
|
65 | 0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 | 0.030 | 0.667 | 3 | 1995 | 2009 | ||||
|
11 | 0.807 | 0.160 | 1 | 182112825 | intron variant | C/T | snv | 0.36 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||
|
11 | 0.776 | 0.200 | 1 | 156899922 | intron variant | G/A | snv | 0.19 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2014 | |||||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.020 | 1.000 | 2 | 1999 | 2013 | |||
|
12 | 0.763 | 0.240 | 1 | 11846011 | stop lost | A/G | snv | 0.14 | 0.21 | 0.020 | 1.000 | 2 | 2012 | 2014 | |||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2010 | 2012 | |||||
|
3 | 0.882 | 0.040 | 1 | 169549874 | missense variant | C/T | snv | 0.11 | 0.12 | 0.020 | 1.000 | 2 | 2000 | 2000 | |||
|
17 | 0.752 | 0.440 | 1 | 169594713 | missense variant | T/G | snv | 8.2E-02 | 7.5E-02 | 0.020 | 1.000 | 2 | 2001 | 2006 | |||
|
3 | 0.882 | 0.040 | 1 | 247443750 | intron variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
6 | 0.827 | 0.120 | 1 | 179354603 | 3 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
20 | 0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 1 | 162199478 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.120 | 1 | 190092815 | downstream gene variant | A/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 |