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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.070 | 0.857 | 7 | 2006 | 2019 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.030 | 1.000 | 3 | 2010 | 2013 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.020 | 1.000 | 2 | 2014 | 2017 | |||
|
2 | 3 | 38865732 | intron variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
6 | 0.851 | 0.200 | 12 | 121155216 | intron variant | C/T | snv | 0.15 | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 3 | 38894643 | missense variant | C/A;T | snv | 8.0E-06; 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 151372636 | missense variant | G/A | snv | 0.31 | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.925 | 0.160 | 22 | 19962794 | missense variant | A/G | snv | 8.4E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
8 | 0.827 | 0.200 | 19 | 7669625 | intron variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1 | 181797301 | intron variant | T/C | snv | 6.3E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.120 | 2 | 166305201 | intron variant | C/A | snv | 0.74 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
27 | 0.683 | 0.440 | 22 | 19963684 | synonymous variant | C/G;T | snv | 0.34 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 12 | 118152057 | intron variant | T/C | snv | 0.71 | 0.010 | 1.000 | 1 | 2014 | 2014 |