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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
47 | 0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
47 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
19 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
22 | 0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
14 | 0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
15 | 0.732 | 0.360 | 19 | 7747847 | upstream gene variant | A/G | snv | 0.26 | 0.070 | 1.000 | 7 | 2010 | 2018 | ||||
|
17 | 0.724 | 0.320 | 10 | 94298541 | missense variant | C/T | snv | 0.27 | 0.31 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
9 | 0.776 | 0.280 | 19 | 7747650 | upstream gene variant | A/G;T | snv | 0.66 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.851 | 0.280 | 17 | 4933086 | missense variant | C/T | snv | 9.8E-02 | 0.13 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.827 | 0.240 | 6 | 31507709 | intron variant | C/T | snv | 0.77 | 0.020 | 0.500 | 2 | 2013 | 2014 | ||||
|
23 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 0.827 | 0.240 | 10 | 94265734 | intron variant | A/C | snv | 9.7E-02 | 8.4E-02 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
5 | 0.851 | 0.240 | 19 | 7748382 | upstream gene variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.790 | 0.160 | 12 | 111449855 | 3 prime UTR variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.851 | 0.120 | 12 | 112961114 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 0.020 | < 0.001 | 2 | 2013 | 2015 | ||||
|
5 | 0.851 | 0.120 | 12 | 112949145 | synonymous variant | T/C | snv | 0.76 | 0.78 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
5 | 0.882 | 0.080 | 12 | 113019120 | upstream gene variant | G/A | snv | 0.22 | 0.020 | 0.500 | 2 | 2013 | 2015 |