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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.020 | 1.000 | 2 | 2012 | 2018 | |||
|
8 | 0.790 | 0.320 | 4 | 38783103 | upstream gene variant | T/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.763 | 0.360 | 17 | 42313892 | 3 prime UTR variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.851 | 0.280 | X | 154013378 | missense variant | G/A | snv | 0.67 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.200 | 11 | 614864 | synonymous variant | C/T | snv | 0.83 | 0.85 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
13 | 0.763 | 0.320 | 12 | 111472415 | intron variant | A/G | snv | 0.66 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.400 | 7 | 107689112 | missense variant | T/C | snv | 6.1E-04 | 8.1E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 8 | 133113438 | missense variant | G/A | snv | 0.48 | 0.56 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
47 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
27 | 0.672 | 0.480 | 12 | 47908762 | intron variant | C/T | snv | 0.38 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.200 | 12 | 68274666 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.240 | 2 | 1404043 | non coding transcript exon variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.763 | 0.320 | 12 | 68251271 | intron variant | C/G | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 4 | 148731326 | intron variant | A/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 14 | 80984708 | intron variant | C/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.827 | 0.080 | 21 | 44289686 | missense variant | G/A;T | snv | 4.0E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
31 | 0.645 | 0.520 | 4 | 153704936 | missense variant | C/T | snv | 8.8E-05 | 9.8E-05 | 0.010 | < 0.001 | 1 | 2020 | 2020 | |||
|
3 | 0.882 | 0.040 | 3 | 119435715 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 10 | 8054236 | intron variant | A/G | snv | 0.77 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 113838835 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 17 | 73850424 | intergenic variant | T/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2019 | 2019 |