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 | 1 | 45331530 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2004 | 2015 | |||||
|
2 | 1.000 | 0.080 | 1 | 45331502 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2004 | 2015 | |||||
|
2 | 1.000 | 0.080 | 5 | 132489457 | missense variant | T/A | snv | 0.700 | 1.000 | 3 | 1998 | 2014 | |||||
|
3 | 0.882 | 0.080 | 5 | 60949318 | intron variant | A/G | snv | 0.15 | 0.030 | 1.000 | 3 | 2015 | 2018 | ||||
|
5 | 0.925 | 0.080 | 1 | 155185239 | intron variant | G/A | snv | 0.55 | 0.030 | 1.000 | 3 | 2011 | 2017 | ||||
|
4 | 0.882 | 0.080 | 6 | 41749967 | intron variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2013 | 2016 | |||||
|
4 | 0.851 | 0.080 | 3 | 87227912 | intron variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2016 | 2017 | |||||
|
5 | 0.925 | 0.080 | 10 | 94292754 | intron variant | C/T | snv | 7.8E-02 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
4 | 0.851 | 0.080 | 17 | 31574981 | intron variant | G/C | snv | 0.66 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
3 | 0.882 | 0.080 | 8 | 142684467 | upstream gene variant | G/A | snv | 0.23 | 0.020 | 0.500 | 2 | 2012 | 2013 | ||||
|
2 | 1.000 | 0.080 | 2 | 201187798 | missense variant | T/C | snv | 1.2E-04 | 2.8E-05 | 0.700 | 1.000 | 2 | 2002 | 2014 | |||
|
3 | 0.925 | 0.080 | 5 | 40795766 | intron variant | C/T | snv | 0.69 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
2 | 0.925 | 0.080 | 17 | 8205021 | synonymous variant | G/A | snv | 0.66 | 0.64 | 0.020 | 1.000 | 2 | 2016 | 2019 | |||
|
2 | 0.925 | 0.080 | 17 | 8207446 | intron variant | C/A | snv | 0.54 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
2 | 0.925 | 0.080 | 10 | 29602392 | intron variant | T/C | snv | 0.48 | 0.48 | 0.020 | 1.000 | 2 | 2012 | 2017 | |||
|
5 | 0.925 | 0.080 | 17 | 39724744 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2004 | 2007 | |||||
|
2 | 0.925 | 0.080 | 2 | 25345310 | upstream gene variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||
|
4 | 0.882 | 0.080 | 1 | 155162859 | intergenic variant | T/C | snv | 0.56 | 0.020 | 1.000 | 2 | 2012 | 2012 | ||||
|
4 | 0.925 | 0.080 | 20 | 32762102 | upstream gene variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||
|
2 | 0.925 | 0.080 | 5 | 40765760 | intron variant | A/C | snv | 2.7E-03 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
2 | 0.925 | 0.080 | 1 | 46177421 | intron variant | A/G | snv | 0.22 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
4 | 0.882 | 0.080 | 10 | 94291660 | intron variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2012 | 2014 | |||||
|
2 | 0.925 | 0.080 | 20 | 56382507 | intron variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2017 | 2019 | |||||
|
6 | 0.882 | 0.080 | 6 | 41751177 | intron variant | G/C | snv | 0.19 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
2 | 0.925 | 0.080 | 4 | 16075214 | intron variant | A/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2015 | 2015 |