| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.240 | 11 | 65571690 | missense variant | G/A | snv |
|
0.020 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.752 | 0.320 | 22 | 41619761 | intron variant | C/T | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.030 | 1.000 | 3 | 2003 | 2005 | |||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.030 | 0.667 | 3 | 2004 | 2011 | |||||||
|
0.790 | 0.200 | 2 | 61492337 | missense variant | C/T | snv | 4.4E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.080 | 1 | 68121775 | intron variant | C/T | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 1 | 224434068 | missense variant | C/T | snv | 1.5E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.827 | 0.280 | 3 | 10149823 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
3 | 11558705 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
0.851 | 0.160 | 4 | 176687553 | intron variant | C/T | snv | 0.24 | 0.25 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.827 | 0.120 | 12 | 47884227 | intron variant | A/C;G;T | snv | 0.60 |
|
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 | ||||||||
|
0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.790 | 0.120 | 12 | 109109255 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
18 | 75286531 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.827 | 0.160 | 3 | 189896847 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.080 | 1.000 | 8 | 2008 | 2016 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.050 | 1.000 | 5 | 2008 | 2016 | |||||||||
|
0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.050 | 1.000 | 5 | 2005 | 2018 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.050 | 1.000 | 5 | 2008 | 2016 | |||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.040 | 1.000 | 4 | 2005 | 2018 |