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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.160 | X | 67568383 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | X | 67764173 | intergenic variant | G/A | snv | 0.61 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
9 | 0.763 | 0.240 | X | 67545785 | synonymous variant | G/A | snv | 0.15 | 0.28 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.040 | 0.750 | 4 | 2004 | 2013 | |||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
25 | 0.695 | 0.400 | 22 | 19962712 | synonymous variant | C/T | snv | 0.46 | 0.45 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
27 | 0.683 | 0.440 | 22 | 19963684 | synonymous variant | C/G;T | snv | 0.34 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 22 | 19963580 | missense variant | G/A | snv | 6.9E-04 | 2.5E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.925 | 0.080 | 22 | 28689804 | intron variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
4 | 0.851 | 0.160 | 19 | 10489766 | synonymous variant | G/C | snv | 0.41 | 0.48 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
23 | 0.677 | 0.480 | 19 | 45365051 | synonymous variant | T/G | snv | 0.58 | 0.65 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
10 | 0.807 | 0.240 | 19 | 7668969 | upstream gene variant | G/A | snv | 5.0E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.160 | 19 | 50406456 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.827 | 0.080 | 19 | 52212718 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 19 | 40254165 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.120 | 19 | 45423352 | missense variant | T/A;C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.080 | 18 | 676789 | intron variant | A/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
12 | 0.763 | 0.120 | 18 | 75305279 | intergenic variant | G/A | snv | 2.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.010 | < 0.001 | 1 | 2011 | 2011 |