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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.030 | 0.667 | 3 | 2002 | 2006 | |||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 12 | 53971491 | intron variant | T/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.776 | 0.360 | 9 | 120942809 | regulatory region variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
26 | 0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 5 | 132205182 | intron variant | G/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
18 | 0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.752 | 0.400 | 1 | 67253446 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
38 | 0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
4 | 0.851 | 0.200 | X | 154046529 | intron variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
26 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
25 | 0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.160 | 18 | 37634043 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
12 | 0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.160 | 16 | 78624496 | intron variant | T/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
22 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
29 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.827 | 0.280 | 9 | 120944104 | regulatory region variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 |