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 | 0.902 | 61 | 2002 | 2019 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.813 | 32 | 2004 | 2019 | |||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.100 | 1.000 | 16 | 2009 | 2020 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.100 | 0.867 | 15 | 2007 | 2020 | |||
|
9 | 0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv | 0.770 | 0.778 | 9 | 2009 | 2016 | |||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.080 | 0.750 | 8 | 2008 | 2017 | |||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.080 | 0.875 | 8 | 2009 | 2018 | |||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.060 | 0.667 | 6 | 2008 | 2019 | |||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.050 | 0.800 | 5 | 2010 | 2018 | |||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.040 | 1.000 | 4 | 2007 | 2014 | |||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.040 | 1.000 | 4 | 2011 | 2017 | |||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.040 | 0.750 | 4 | 2012 | 2018 | ||||
|
12 | 0.732 | 0.360 | 1 | 236838504 | synonymous variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.040 | 1.000 | 4 | 2008 | 2016 | |||
|
21 | 0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 | 0.730 | 0.750 | 4 | 2013 | 2018 | ||||
|
55 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 0.040 | 0.750 | 4 | 2007 | 2014 | |||||
|
33 | 0.637 | 0.640 | 1 | 186681619 | upstream gene variant | T/C | snv | 0.17 | 0.040 | 0.750 | 4 | 2014 | 2018 | ||||
|
26 | 0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 | 0.040 | 0.750 | 4 | 2003 | 2017 | ||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.030 | 1.000 | 3 | 2012 | 2015 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.030 | 0.333 | 3 | 2012 | 2018 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.030 | 0.333 | 3 | 2012 | 2014 | ||||
|
2 | 0.925 | 0.080 | 1 | 226385663 | synonymous variant | A/G | snv | 0.43 | 0.42 | 0.030 | 0.667 | 3 | 2007 | 2018 | |||
|
7 | 0.790 | 0.240 | 1 | 11795191 | missense variant | C/A;G | snv | 1.8E-04 | 2.0E-04 | 0.030 | 0.667 | 3 | 2007 | 2017 | |||
|
31 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.030 | 0.667 | 3 | 2009 | 2019 | |||
|
2 | 0.925 | 0.080 | 1 | 117210906 | 5 prime UTR variant | G/A;T | snv | 3.8E-02 | 0.030 | 1.000 | 3 | 2009 | 2015 | ||||
|
9 | 0.790 | 0.160 | 1 | 186679065 | synonymous variant | C/G;T | snv | 0.12; 8.0E-06 | 0.030 | 0.667 | 3 | 2010 | 2015 |