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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 4 | 177309998 | synonymous variant | C/A | snv | 0.20 | 0.20 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
4 | 0.882 | 0.120 | 22 | 23898914 | non coding transcript exon variant | C/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 2 | 218162165 | downstream gene variant | G/A | snv | 0.43 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.827 | 0.120 | 9 | 21853340 | intron variant | A/G | snv | 0.26 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.160 | 2 | 96115728 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.160 | 4 | 3004316 | missense variant | C/A;G;T | snv | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 22 | 31104550 | 3 prime UTR variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.807 | 0.320 | 21 | 31667849 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
15 | 0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.807 | 0.160 | 21 | 31664078 | intron variant | T/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 12 | 6330873 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 4 | 154604818 | 3 prime UTR variant | G/A | snv | 0.67 | 0.70 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
10 | 0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 17 | 4735442 | missense variant | A/G | snv | 0.46 | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
7 | 0.851 | 0.240 | 16 | 3657746 | missense variant | G/A;T | snv | 0.36; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.827 | 0.120 | 17 | 1754359 | missense variant | G/A | snv | 0.22 | 0.20 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 10 | 95037104 | 3 prime UTR variant | G/A | snv | 0.22 | 0.24 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
24 | 0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 0.807 | 0.320 | 3 | 186856286 | 3 prime UTR variant | C/T | snv | 9.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.360 | 3 | 186857603 | 3 prime UTR variant | G/A;C | snv | 0.10 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.160 | 1 | 247459055 | upstream gene variant | A/G | snv | 0.81 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.120 | 9 | 22049131 | non coding transcript exon variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
34 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 |