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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | X | 100862805 | missense variant | G/A | snv | 5.9E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
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 | ||||||||
|
0.776 | 0.280 | X | 101403984 | missense variant | C/G | snv | 1.2E-04 | 1.9E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2002 | 2012 | ||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2004 | 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 | |||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 7 | 150951484 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
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 | |||||||||
|
0.925 | 0.120 | 1 | 156115162 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.827 | 0.160 | 1 | 156134830 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.040 | 5 | 156595000 | missense variant | T/G | snv | 2.0E-04 | 1.3E-04 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.160 | 1 | 182112825 | intron variant | C/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
16 | 2084306 | frameshift variant | -/TCTCCTCG | delins |
|
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 | |||||||||
|
0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
1 | 230712433 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
1.000 | 0.080 | 6 | 31531826 | intron variant | C/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 |
|
0.020 | 1.000 | 2 | 2007 | 2017 |