| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 2084306 | frameshift variant | -/TCTCCTCG | delins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.827 | 0.160 | 1 | 156134830 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2011 | 2014 | |||||||
|
10 | 51145734 | intron variant | A/G | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.080 | 7 | 80661053 | intron variant | A/G | snv | 0.97 | 0.92 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.200 | 17 | 63941169 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
1.000 | 0.160 | X | 101398432 | missense variant | C/A;T | snv | 3.0E-03; 5.4E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.807 | 0.200 | 3 | 8745644 | missense variant | C/A;T | snv | 4.0E-06; 2.6E-03 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||||
|
0.776 | 0.280 | X | 101403984 | missense variant | C/G | snv | 1.2E-04 | 1.9E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 6 | 31531826 | intron variant | C/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 3 | 38554309 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.807 | 0.160 | 1 | 182112825 | intron variant | C/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 7 | 150951484 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 7 | 150965242 | intron variant | C/T | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1 | 156114996 | synonymous variant | C/T | snv | 2.2E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 |
|
0.020 | 1.000 | 2 | 2007 | 2017 |