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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.851 | 0.120 | 16 | 72963084 | intron variant | C/T | snv | 0.94 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.080 | 6 | 38139068 | intron variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.851 | 0.120 | 12 | 122479003 | intron variant | C/T | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.120 | 3 | 38362981 | missense variant | C/A;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
53 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
10 | 0.790 | 0.240 | 4 | 6301627 | missense variant | G/A | snv | 0.55 | 0.42 | 0.020 | 1.000 | 2 | 2008 | 2014 | |||
|
7 | 0.827 | 0.120 | 4 | 6291188 | intron variant | A/G | snv | 0.66 | 0.63 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.925 | 0.080 | 4 | 6280234 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 1.000 | 0.040 | 15 | 53590245 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.763 | 0.400 | 12 | 6044368 | missense variant | T/C;G | snv | 0.31 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
3 | 0.925 | 0.080 | 3 | 42537370 | 3 prime UTR variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
38 | 0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
62 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.790 | 0.200 | 12 | 47863983 | intron variant | T/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.080 | 1 | 107765105 | missense variant | T/A | snv | 0.58 | 0.64 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
13 | 0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
15 | 0.732 | 0.440 | 1 | 7849677 | missense variant | C/T | snv | 8.7E-02 | 5.6E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
10 | 0.827 | 0.200 | 16 | 20354332 | intron variant | A/G | snv | 0.23 | 0.710 | 1.000 | 2 | 2011 | 2018 | ||||
|
11 | 0.827 | 0.200 | 16 | 20356368 | upstream gene variant | G/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 1.000 | 0.040 | 16 | 20356323 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.882 | 0.120 | 11 | 74006339 | missense variant | A/G | snv | 1.7E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 |