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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 18 | 63319316 | 5 prime UTR variant | C/G | snv | 0.98 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.807 | 0.160 | 10 | 113729393 | missense variant | C/G | snv | 0.26 | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.882 | 0.160 | 12 | 47884407 | intron variant | C/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.120 | 4 | 102501347 | 5 prime UTR variant | C/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.120 | 8 | 27052774 | upstream gene variant | C/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.120 | 12 | 9669791 | missense variant | C/G;T | snv | 0.14; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.160 | 11 | 111911560 | synonymous variant | C/G;T | snv | 1.5E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.925 | 0.120 | 11 | 69651969 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
42 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
62 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 0.030 | 1.000 | 3 | 2012 | 2013 | ||||
|
48 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
3 | 1.000 | 0.080 | 8 | 120798309 | intron variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.080 | 5 | 1343679 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.080 | 16 | 78099774 | 5 prime UTR variant | C/T | snv | 0.30 | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
9 | 0.776 | 0.240 | 2 | 216109091 | splice region variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
45 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
2 | 1.000 | 0.120 | 18 | 52259936 | intergenic variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.851 | 0.200 | 17 | 19649164 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
20 | 0.695 | 0.240 | 10 | 133526341 | non coding transcript exon variant | C/T | snv | 3.1E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 |