| 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 | 0.120 | 12 | 89666809 | intron variant | G/A | snv | 0.15 |
|
0.800 | 0.929 | 14 | 2010 | 2019 | ||||||||
|
0.882 | 0.080 | 10 | 103086421 | 3 prime UTR variant | T/C | snv | 8.6E-02 |
|
0.780 | 1.000 | 9 | 2011 | 2018 | ||||||||
|
0.882 | 0.080 | 12 | 89615182 | intron variant | A/G | snv | 0.14 |
|
0.860 | 1.000 | 8 | 2009 | 2019 | ||||||||
|
0.925 | 0.120 | 4 | 80263187 | upstream gene variant | A/G;T | snv |
|
0.760 | 0.857 | 7 | 2010 | 2018 | |||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.060 | 0.667 | 6 | 2001 | 2019 | |||||||||
|
1.000 | 0.040 | 2 | 168159404 | intron variant | C/T | snv | 0.16 |
|
0.060 | 0.833 | 6 | 2012 | 2019 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.060 | 0.833 | 6 | 2008 | 2015 | |||||||||
|
0.882 | 0.040 | 4 | 148152550 | stop gained | G/A;T | snv |
|
0.060 | 0.833 | 6 | 2000 | 2005 | |||||||||
|
0.790 | 0.240 | 15 | 74785026 | intron variant | C/A;T | snv |
|
0.050 | 0.800 | 5 | 2012 | 2018 | |||||||||
|
0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv |
|
0.050 | 0.800 | 5 | 2011 | 2019 | |||||||||
|
1.000 | 0.040 | 11 | 57238490 | upstream gene variant | A/G;T | snv |
|
0.050 | 1.000 | 5 | 2009 | 2016 | |||||||||
|
1.000 | 0.040 | 11 | 57238113 | upstream gene variant | T/C | snv | 0.73 |
|
0.040 | 1.000 | 4 | 2009 | 2018 | ||||||||
|
12 | 748335 | upstream gene variant | A/C;T | snv |
|
0.040 | 1.000 | 4 | 2005 | 2018 | |||||||||||
|
0.742 | 0.200 | 8 | 142918184 | upstream gene variant | A/G;T | snv | 0.38 |
|
0.040 | 0.750 | 4 | 2010 | 2019 | ||||||||
|
0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 |
|
0.040 | 1.000 | 4 | 2011 | 2012 | ||||||||
|
0.790 | 0.160 | 10 | 88583641 | 5 prime UTR variant | A/G | snv | 0.29 |
|
0.040 | 0.750 | 4 | 2012 | 2016 | ||||||||
|
0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv |
|
0.040 | 1.000 | 4 | 2010 | 2017 | |||||||||
|
0.851 | 0.160 | X | 129655744 | upstream gene variant | A/C | snv | 0.11 |
|
0.040 | 1.000 | 4 | 2009 | 2016 | ||||||||
|
0.925 | 0.080 | 7 | 150993088 | intron variant | C/T | snv | 5.7E-02 |
|
0.040 | 1.000 | 4 | 2012 | 2015 | ||||||||
|
0.752 | 0.120 | 1 | 192812042 | 3 prime UTR variant | C/G;T | snv |
|
0.040 | 1.000 | 4 | 2013 | 2018 | |||||||||
|
0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 |
|
0.040 | 0.500 | 4 | 2010 | 2019 | ||||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.040 | 0.500 | 4 | 2010 | 2013 | ||||||||
|
0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 |
|
0.030 | 0.667 | 3 | 2016 | 2018 | ||||||||
|
0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 |
|
0.030 | 1.000 | 3 | 2009 | 2016 | ||||||||
|
1.000 | 12 | 63146696 | 3 prime UTR variant | C/A | snv | 0.12 |
|
0.030 | 0.667 | 3 | 2011 | 2019 |