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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 1 | 157699878 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 8 | 101524177 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 6 | 159682587 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 12 | 49964271 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 5 | 151021735 | non coding transcript exon variant | T/C | snv | 8.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 7 | 116556798 | intron variant | T/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 8 | 101491489 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 8 | 101669109 | 3 prime UTR variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.851 | 0.160 | MT | 5178 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.882 | 0.160 | 5 | 60440946 | intron variant | A/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.851 | 0.200 | 18 | 26866562 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.827 | 0.320 | 1 | 157699488 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.320 | 1 | 157698600 | missense variant | T/C;G | snv | 0.45 | 0.51 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.827 | 0.320 | 1 | 94532395 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
8 | 0.776 | 0.440 | 6 | 31810169 | missense variant | C/T | snv | 0.32 | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
24 | 0.677 | 0.440 | 7 | 95405463 | missense variant | G/C | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
37 | 0.630 | 0.520 | 6 | 12296022 | missense variant | G/T | snv | 0.23 | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
13 | 0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
43 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
32 | 0.653 | 0.600 | 16 | 88646828 | missense variant | A/G;T | snv | 0.70 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
65 | 0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 | 0.020 | 0.500 | 2 | 2006 | 2011 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.020 | 0.500 | 2 | 2006 | 2011 |