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 | 0.040 | 10 | 101791382 | missense variant | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 3 | 101980310 | intron variant | C/T | snv | 0.55 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
24 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.080 | 12 | 108878275 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.882 | 0.080 | 12 | 108883967 | intron variant | T/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.080 | 12 | 108884971 | intron variant | T/A;G | snv | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.080 | 12 | 108889827 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.851 | 0.160 | 19 | 11111624 | missense variant | G/A | snv | 4.3E-02 | 8.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 8 | 11247568 | downstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 5 | 11320426 | intron variant | G/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
8 | 0.807 | 0.120 | 11 | 113393764 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 1.000 | 0.040 | 11 | 113413797 | intron variant | T/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 1.000 | 0.040 | 11 | 113447251 | intron variant | T/C | snv | 0.49 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
12 | 0.763 | 0.240 | 1 | 115286692 | missense variant | G/A | snv | 0.37 | 0.36 | 0.020 | 0.500 | 2 | 2008 | 2012 | |||
|
3 | 0.925 | 0.120 | 8 | 11722293 | intron variant | A/G | snv | 0.83 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
2 | 1.000 | 0.040 | 2 | 119372265 | missense variant | A/C;G | snv | 4.0E-06; 2.5E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.851 | 0.080 | 12 | 121274274 | missense variant | T/A;G | snv | 0.38 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.040 | 7 | 12382283 | intron variant | T/C | snv | 5.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 11 | 124568716 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2014 | 2014 |