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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.882 | 0.120 | 15 | 67794500 | intron variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.790 | 0.360 | 10 | 67906841 | synonymous variant | T/C | snv | 0.11 | 7.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
15 | 0.752 | 0.320 | 16 | 55478465 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
48 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
16 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 1.000 | 0.080 | 3 | 52825614 | intron variant | C/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 74504631 | intron variant | A/G | snv | 0.67 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 110873500 | upstream gene variant | C/A;G | snv | 0.80 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.827 | 0.120 | 2 | 226241205 | intergenic variant | C/T | snv | 0.58 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | 1 | 46406314 | stop gained | T/A;C | snv | 0.87 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.200 | 20 | 56248749 | 5 prime UTR variant | C/A | snv | 0.14 | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.080 | 7 | 106283804 | intron variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.200 | 20 | 56248973 | missense variant | G/A | snv | 0.14 | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
10 | 0.776 | 0.280 | 7 | 151005693 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.160 | 6 | 28515705 | missense variant | A/C | snv | 0.38 | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 6 | 28526550 | intron variant | A/G | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
13 | 0.807 | 0.200 | 5 | 77222617 | intron variant | G/A | snv | 0.54 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 18 | 60371454 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
8 | 0.851 | 0.160 | 5 | 96393270 | missense variant | G/C | snv | 0.27 | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
22 | 0.689 | 0.320 | 19 | 54173068 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
17 | 0.724 | 0.520 | 11 | 73983709 | non coding transcript exon variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2007 | 2007 |