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 | 0.050 | 0.800 | 5 | 1998 | 2016 | |||
|
11 | 0.752 | 0.360 | 1 | 209790735 | missense variant | C/T | snv | 8.7E-02 | 3.9E-02 | 0.050 | 1.000 | 5 | 2005 | 2017 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2003 | 2009 | |||||
|
14 | 0.732 | 0.440 | 1 | 209815925 | intergenic variant | A/G | snv | 0.84 | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||
|
1 | 1.000 | 1 | 153928504 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 1.000 | 1 | 153966654 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
7 | 0.807 | 0.320 | 1 | 11790870 | missense variant | C/T | snv | 5.6E-02 | 4.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 1 | 228037123 | intron variant | A/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 1 | 211596976 | regulatory region variant | T/C | snv | 0.86 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 1 | 18657203 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 0.851 | 0.200 | 2 | 179745354 | intron variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.200 | 2 | 218889997 | synonymous variant | C/T | snv | 3.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.827 | 0.240 | 2 | 70450862 | synonymous variant | G/A | snv | 0.24 | 0.23 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.851 | 0.200 | 2 | 179449268 | intron variant | T/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 2 | 16552660 | splice region variant | A/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 2 | 120989858 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.200 | 4 | 109576918 | intron variant | C/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 5 | 69113267 | non coding transcript exon variant | A/C;T | snv | 0.67; 6.1E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 5 | 69129872 | 3 prime UTR variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 0.925 | 6 | 150898848 | intron variant | -/A;ATA;ATTATG | ins | 5.8E-05; 4.3E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 6 | 10406842 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2009 | 2009 |