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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.882 | 0.040 | 1 | 230063651 | intron variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.807 | 0.080 | 1 | 162066689 | upstream gene variant | G/A | snv | 8.6E-02 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
16 | 0.851 | 0.040 | 1 | 109274968 | 3 prime UTR variant | G/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.040 | 1 | 205515245 | intron variant | C/T | snv | 1.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.160 | 1 | 236816521 | missense variant | G/A;C;T | snv | 8.4E-04; 2.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.807 | 0.120 | 1 | 162065484 | upstream gene variant | T/C | snv | 0.22 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
8 | 0.851 | 0.120 | 1 | 62583922 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
12 | 0.752 | 0.320 | 1 | 1212042 | synonymous variant | C/T | snv | 0.37 | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.882 | 0.040 | 1 | 230159169 | intron variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.827 | 0.040 | 1 | 150150942 | missense variant | C/G;T | snv | 1.1E-02; 1.6E-05 | 4.4E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
6 | 0.807 | 0.080 | 1 | 7929506 | intron variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
14 | 0.732 | 0.320 | 1 | 161043331 | 5 prime UTR variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.040 | 1 | 234605171 | 3 prime UTR variant | -/GTTACAATA;GTTATAATA | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
17 | 0.724 | 0.280 | 1 | 159714875 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
4 | 0.851 | 0.120 | 1 | 28149490 | 3 prime UTR variant | T/C | snv | 0.29 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 1 | 111500165 | missense variant | T/G | snv | 9.4E-02 | 9.8E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
17 | 0.716 | 0.400 | 1 | 173206693 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.040 | 1 | 74769633 | downstream gene variant | T/C | snv | 0.71 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.790 | 0.160 | 1 | 154446403 | intron variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
11 | 0.776 | 0.360 | 1 | 11790308 | 3 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
12 | 0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
8 | 0.807 | 0.160 | 1 | 161223893 | upstream gene variant | G/A | snv | 0.68 | 0.010 | 1.000 | 1 | 2008 | 2008 |