| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2002 | 2012 | ||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2004 | 2011 | |||||||||
|
0.851 | 0.200 | 17 | 63941169 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.882 | 0.120 | 3 | 38554309 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.020 | 1.000 | 2 | 2006 | 2016 | |||||||
|
0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 |
|
0.020 | 1.000 | 2 | 2007 | 2017 | |||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
19 | 35756950 | missense variant | G/A | snv | 8.9E-04 | 1.3E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.120 | 3 | 38575424 | missense variant | G/A | snv | 1.4E-04 | 7.7E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
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 | ||||||||
|
1.000 | 0.080 | 7 | 150965242 | intron variant | C/T | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.120 | 1 | 156115162 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.677 | 0.440 | 7 | 95405463 | missense variant | G/C | snv | 0.27 | 0.27 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2011 | 2014 | |||||||
|
0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
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 | |||||||
|
0.882 | 0.040 | 12 | 6019277 | missense variant | T/A;C | snv | 4.0E-06; 0.69 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
1 | 156114996 | synonymous variant | C/T | snv | 2.2E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.827 | 0.160 | 1 | 156134830 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
10 | 51145734 | intron variant | A/G | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2013 | 2013 |