| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 19 | 43552189 | missense variant | T/C | snv | 7.2E-03 | 2.6E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.120 | 19 | 43546062 | missense variant | C/T | snv | 1.2E-04 | 1.3E-04 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.120 | 3 | 14178523 | missense variant | G/C;T | snv | 4.2E-02; 8.1E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 16 | 78986883 | intron variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.200 | 7 | 117277064 | 3 prime UTR variant | C/T | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 4 | 176689730 | intron variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 4 | 176702723 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.160 | 4 | 176687553 | intron variant | C/T | snv | 0.24 | 0.25 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
0.020 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.240 | 6 | 43783622 | non coding transcript exon variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 |
|
0.020 | 1.000 | 2 | 2019 | 2020 | |||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 12 | 47875627 | intron variant | A/C;G | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.360 | 12 | 47906043 | non coding transcript exon variant | T/C | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | X | 7843706 | missense variant | T/A;C;G | snv | 4.9E-05; 0.19 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 161042800 | intron variant | G/A | snv | 0.25 | 0.22 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.200 | 1 | 161040972 | intron variant | C/T | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.732 | 0.320 | 1 | 161043331 | 5 prime UTR variant | C/T | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 12 | 109095724 | upstream gene variant | T/C | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 4 | 69293669 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.160 | 2 | 233682328 | missense variant | CG/AA | mnv |
|
0.010 | 1.000 | 1 | 2001 | 2001 |