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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.030 | 1.000 | 3 | 2013 | 2018 | |||
|
36 | 0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 | 0.030 | 1.000 | 3 | 2016 | 2018 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2018 | 2020 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.020 | 1.000 | 2 | 2005 | 2019 | |||
|
3 | 0.882 | 0.080 | 17 | 61679808 | 3 prime UTR variant | T/A;C | snv | 0.020 | 0.500 | 2 | 2013 | 2016 | |||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.020 | 1.000 | 2 | 2013 | 2017 | |||
|
27 | 0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 | 0.020 | 0.500 | 2 | 2017 | 2019 | ||||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.020 | 1.000 | 2 | 2014 | 2014 | |||
|
6 | 0.827 | 0.080 | 4 | 55885574 | intron variant | C/T | snv | 0.21 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.020 | 1.000 | 2 | 2010 | 2016 | |||
|
32 | 0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 | 0.020 | < 0.001 | 2 | 2014 | 2017 | ||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
22 | 0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 | 0.020 | 0.500 | 2 | 2012 | 2016 | ||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.020 | 0.500 | 2 | 2011 | 2018 | |||
|
5 | 0.827 | 0.120 | 17 | 61863458 | 5 prime UTR variant | C/T | snv | 0.42 | 0.020 | 0.500 | 2 | 2016 | 2018 | ||||
|
18 | 0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||
|
48 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
48 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
10 | 0.827 | 0.120 | 6 | 31422633 | intron variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||
|
5 | 0.851 | 0.200 | 10 | 44378805 | intron variant | C/T | snv | 0.32 | 0.020 | 1.000 | 2 | 2009 | 2015 | ||||
|
3 | 0.882 | 0.080 | 6 | 33121846 | intron variant | C/A;G | snv | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.020 | 1.000 | 2 | 2019 | 2019 |