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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2008 | 2010 | |||||
|
8 | 0.925 | 3 | 46410189 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
11 | 0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.882 | 8 | 64727703 | intron variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 11 | 108048172 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.925 | 16 | 13267554 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.925 | 19 | 8066356 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 20 | 36896959 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.882 | 0.080 | 6 | 131504454 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.925 | 3 | 115559835 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
5 | 0.925 | 11 | 17094129 | intron variant | T/C | snv | 6.2E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.925 | 3 | 1383484 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.925 | 2 | 8037334 | intron variant | G/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.925 | 7 | 126684537 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.160 | 11 | 32389228 | intron variant | A/G | snv | 0.35 | 0.35 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.040 | 21 | 41380411 | intron variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 11 | 32399873 | intron variant | T/C | snv | 1.4E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 22 | 39083569 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 0.882 | 0.160 | 11 | 32436129 | intron variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
6 | 0.882 | 0.120 | 6 | 31352761 | intron variant | C/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.882 | 0.080 | 11 | 33436311 | intron variant | A/G | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 22 | 39081386 | intron variant | T/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.925 | 6 | 30036275 | intron variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.925 | 6 | 31403294 | intron variant | C/A | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 |