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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.020 | 0.500 | 2 | 2010 | 2018 | ||||
|
14 | 0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 | 0.020 | 1.000 | 2 | 2014 | 2017 | |||
|
66 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.020 | 0.500 | 2 | 2007 | 2010 | |||
|
41 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
24 | 0.683 | 0.560 | 5 | 35874473 | missense variant | C/T | snv | 0.23 | 0.21 | 0.020 | 1.000 | 2 | 2015 | 2017 | |||
|
2 | 0.925 | 3 | 46410189 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
9 | 0.790 | 0.240 | 2 | 189565370 | missense variant | C/A | snv | 3.8E-03 | 1.6E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 9 | 14841389 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
30 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
25 | 0.662 | 0.640 | 10 | 52771475 | missense variant | C/T | snv | 0.14 | 0.11 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 3 | 46373570 | missense variant | G/A | snv | 4.9E-03 | 1.9E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
74 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
46 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 3 | 46373218 | missense variant | G/A | snv | 5.2E-04 | 1.5E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.925 | 0.240 | 2 | 218390027 | missense variant | C/T | snv | 2.9E-04 | 7.7E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
3 | 1.000 | 0.080 | 12 | 68253559 | intron variant | T/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 1 | 206842612 | missense variant | T/C;G | snv | 0.71; 5.5E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.160 | 12 | 6800276 | intron variant | T/C | snv | 0.59 | 0.61 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
6 | 0.790 | 0.320 | 6 | 31464003 | non coding transcript exon variant | T/G | snv | 2.7E-02 | 2.4E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 3 | 39332411 | missense variant | C/A;G;T | snv | 4.0E-06; 0.21; 2.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.040 | 3 | 46264639 | non coding transcript exon variant | G/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 |