Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 1 | 85582045 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.807 | 0.200 | 1 | 204559956 | downstream gene variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 145995155 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.200 | 1 | 109740350 | 5 prime UTR variant | G/T | snv | 0.64 | 0.66 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.827 | 0.040 | 1 | 67687668 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.080 | 1 | 162775837 | missense variant | C/G;T | snv | 1.5E-04 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.360 | 1 | 206771607 | intron variant | T/G | snv | 8.0E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 1 | 169731361 | intron variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.080 | 1 | 22912497 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.050 | 1.000 | 5 | 2014 | 2020 | ||||||||
|
0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2007 | 2011 | ||||||||
|
2 | 201880120 | missense variant | A/G | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
2 | 46576601 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
2 | 46701027 | intron variant | C/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
2 | 218890134 | missense variant | G/A | snv | 4.4E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.776 | 0.200 | 2 | 217445617 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 |