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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 10 | 79184084 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 10 | 79205218 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.160 | 3 | 147491392 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.925 | 0.160 | 20 | 41203988 | missense variant | T/C | snv | 0.14 | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.080 | 6 | 38139068 | intron variant | T/C | snv | 0.12 | 0.810 | 1.000 | 3 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 38031447 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 3 | 28485764 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 5 | 77129124 | intron variant | G/A | snv | 0.74 | 0.800 | 1.000 | 5 | 2010 | 2017 | ||||
|
1 | 1.000 | 0.080 | 5 | 77131486 | intron variant | G/A | snv | 0.76 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||
|
3 | 1.000 | 0.080 | 5 | 77130042 | intron variant | G/A | snv | 0.76 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 5 | 113591989 | splice region variant | C/A | snv | 0.15 | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 7 | 44209229 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 16 | 17166334 | intron variant | C/G | snv | 1.5E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.020 | 1.000 | 2 | 2014 | 2016 | |||
|
1 | 1.000 | 0.080 | 12 | 108219374 | intron variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 12 | 108224853 | missense variant | C/T | snv | 0.27 | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
6 | 0.925 | 0.120 | 8 | 31068328 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 1633343 | intron variant | C/G | snv | 7.2E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 1 | 68177408 | intron variant | T/C | snv | 0.55 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.827 | 0.120 | 4 | 6291188 | intron variant | A/G | snv | 0.66 | 0.63 | 0.060 | 1.000 | 6 | 2009 | 2013 | |||
|
1 | 1.000 | 0.080 | 4 | 6301295 | missense variant | C/A;G;T | snv | 0.67 | 0.810 | 1.000 | 5 | 2010 | 2018 | ||||
|
4 | 0.882 | 0.360 | 4 | 6268329 | upstream gene variant | G/A | snv | 0.64 | 0.820 | 1.000 | 5 | 2009 | 2017 | ||||
|
10 | 0.790 | 0.240 | 4 | 6301627 | missense variant | G/A | snv | 0.55 | 0.42 | 0.030 | 1.000 | 3 | 2008 | 2013 | |||
|
1 | 1.000 | 0.080 | 4 | 6300792 | missense variant | G/A;C;T | snv | 0.78 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
3 | 1.000 | 0.080 | 4 | 6288259 | intron variant | T/G | snv | 0.61 | 0.800 | 1.000 | 2 | 2012 | 2014 |