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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.120 | 8 | 81741409 | intron variant | A/G | snv | 6.6E-02 | 0.710 | 1.000 | 2 | 2013 | 2015 | ||||
|
7 | 0.790 | 0.160 | 10 | 21626690 | intron variant | T/A | snv | 0.23 | 0.710 | 1.000 | 2 | 2013 | 2015 | ||||
|
2 | 0.925 | 0.120 | 4 | 119028805 | intron variant | A/C;T | snv | 0.710 | 1.000 | 2 | 2015 | 2017 | |||||
|
6 | 0.807 | 0.160 | 17 | 37736525 | intron variant | C/G;T | snv | 0.710 | 1.000 | 2 | 2013 | 2015 | |||||
|
2 | 0.925 | 0.120 | 4 | 69591303 | intron variant | T/C | snv | 0.75 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.120 | 8 | 128531703 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 7 | 11524758 | intron variant | C/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 1 | 17590467 | intron variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 12 | 63871057 | intron variant | G/A | snv | 0.15 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 7 | 55020815 | intron variant | T/C | snv | 1.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 6 | 28518321 | intron variant | A/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.763 | 0.160 | 17 | 37739849 | intron variant | T/C | snv | 0.52 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 20 | 41161795 | intron variant | C/T | snv | 4.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 1 | 37616450 | intron variant | G/A | snv | 0.24 | 0.21 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
10 | 0.763 | 0.200 | 16 | 331927 | intron variant | C/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 9 | 98998959 | intron variant | G/A;T | snv | 0.710 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.120 | 10 | 82191935 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 1 | 87773925 | intron variant | G/A | snv | 6.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.280 | 1 | 10325413 | intron variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 22 | 28696732 | intron variant | C/T | snv | 7.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.160 | 17 | 46710944 | intron variant | G/A | snv | 0.28 | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.120 | 14 | 32706736 | intron variant | T/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 2 | 30754766 | intron variant | C/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 7 | 50674920 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |