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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 0.120 | 12 | 21229685 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 5 | 37815877 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 3 | 12416785 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.120 | 6 | 106104897 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.120 | 8 | 128064327 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 2 | 219216441 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.120 | 6 | 137881310 | missense variant | G/A | snv | 4.3E-04 | 4.4E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 1.000 | 0.120 | 17 | 63929438 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.120 | 12 | 122046634 | intron variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 12 | 6955413 | missense variant | C/A | snv | 3.8E-04 | 4.0E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.120 | 11 | 60463058 | synonymous variant | C/T | snv | 7.1E-02 | 5.4E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.120 | 6 | 3076907 | missense variant | T/C;G | snv | 0.91 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 6 | 31355013 | non coding transcript exon variant | T/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 3 | 122098766 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.120 | 16 | 3745362 | splice region variant | G/A | snv | 7.7E-02 | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.120 | 11 | 108244860 | synonymous variant | C/G;T | snv | 1.1E-02 | 1.1E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.120 | 12 | 7089608 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 8 | 128257220 | TF binding site variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 17 | 7674889 | missense variant | A/C;G | snv | 3.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 3 | 27752141 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
2 | 1.000 | 0.120 | 3 | 187931631 | downstream gene variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.120 | 14 | 103018488 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 14 | 23357350 | frameshift variant | -/C | delins | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 17 | 7673308 | stop lost | T/G | snv | 2.3E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.120 | 22 | 28795623 | missense variant | C/A;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 |