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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 9 | 22006274 | intron variant | G/A;C;T | snv | 4.4E-06; 4.4E-06; 7.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 15 | 92114143 | intron variant | T/A;C;G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.200 | 12 | 116564853 | intron variant | G/A | snv | 0.12 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.200 | 19 | 44007237 | intron variant | G/T | snv | 0.62 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 7 | 50461751 | intron variant | C/G | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.790 | 0.360 | 17 | 39909987 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 7 | 21445779 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 1 | 102955788 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.120 | 5 | 174435441 | intron variant | A/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 10 | 17346144 | intron variant | C/T | snv | 3.6E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.763 | 0.320 | 9 | 21984662 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.120 | 10 | 8059964 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 18 | 77002561 | intron variant | G/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 7 | 50504298 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.120 | 7 | 50477395 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 11 | 48093537 | intron variant | C/T | snv | 0.69 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.120 | 7 | 50593712 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 7 | 50593964 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 10 | 61963136 | intron variant | C/T | snv | 0.69 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 5 | 80655677 | intron variant | G/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.120 | 9 | 32867483 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 8 | 129143897 | intron variant | A/C;G | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 10 | 22557806 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 7 | 50498392 | intron variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.120 | 7 | 50505011 | intron variant | A/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2013 | 2013 |