| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.240 | 7 | 50402906 | 3 prime UTR variant | T/G | snv | 0.25 |
|
0.820 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
0.742 | 0.200 | 10 | 61963818 | intron variant | C/T | snv | 0.69 |
|
0.810 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
0.763 | 0.240 | 7 | 50398606 | intron variant | A/G | snv | 0.25 |
|
0.810 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
0.790 | 0.120 | 10 | 61950345 | intron variant | A/G | snv | 0.49 |
|
0.710 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
0.925 | 0.120 | 10 | 61964631 | intron variant | A/G | snv | 0.74 |
|
0.710 | 1.000 | 1 | 2013 | 2017 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 1.000 | 14 | 2001 | 2019 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.070 | 1.000 | 7 | 2004 | 2015 | |||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.030 | 1.000 | 3 | 2003 | 2012 | ||||||||
|
0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2007 | 2012 | |||||||||
|
0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 |
|
0.020 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.160 | 9 | 130872901 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.240 | 10 | 61958720 | intron variant | C/A | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.742 | 0.400 | 13 | 48045719 | missense variant | C/T | snv | 2.8E-02 | 1.1E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 9 | 130862976 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.851 | 0.160 | 9 | 130872903 | missense variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.120 | 9 | 5078395 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 13 | 48045720 | missense variant | G/A | snv | 2.6E-03 | 2.2E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.732 | 0.240 | 11 | 32396399 | synonymous variant | T/C | snv | 0.24; 4.0E-06 | 0.17 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |