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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.100 | 1.000 | 12 | 2007 | 2015 | |||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.050 | 0.600 | 5 | 1999 | 2012 | |||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.020 | 1.000 | 2 | 2014 | 2018 | |||
|
27 | 0.683 | 0.440 | 22 | 19963684 | synonymous variant | C/G;T | snv | 0.34 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||
|
19 | 0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
5 | 0.882 | 0.120 | 8 | 26770511 | missense variant | A/G | snv | 0.52 | 0.56 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
12 | 0.790 | 0.240 | 11 | 27662970 | intron variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.160 | 2 | 2026171 | intron variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 4 | 76021932 | stop lost | A/G | snv | 2.9E-04 | 2.4E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
13 | 0.752 | 0.320 | 17 | 34285875 | missense variant | G/A;C;T | snv | 0.16; 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.120 | 11 | 27661764 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.807 | 0.280 | 7 | 151003224 | missense variant | C/T | snv | 7.9E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 8 | 26865532 | 5 prime UTR variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 17 | 36105271 | missense variant | T/A | snv | 0.21 | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.851 | 0.120 | 6 | 12288986 | upstream gene variant | T/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 7 | 10642782 | intron variant | A/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
15 | 0.724 | 0.440 | 16 | 3254463 | missense variant | C/T | snv | 0.24 | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
30 | 0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 19 | 2936537 | stop gained | G/A | snv | 3.1E-02 | 3.4E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
5 | 0.882 | 0.160 | 5 | 143399792 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.240 | 2 | 75192588 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
25 | 0.695 | 0.400 | 22 | 19962712 | synonymous variant | C/T | snv | 0.46 | 0.45 | 0.010 | < 0.001 | 1 | 2016 | 2016 |