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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 22 | 49824963 | intron variant | A/C | snv | 0.36 |
|
0.820 | 0.667 | 2 | 2010 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 37975389 | intron variant | G/C;T | snv |
|
0.020 | 1.000 | 2 | 2012 | 2013 | |||||||||
|
1.000 | 0.040 | 13 | 111267594 | missense variant | A/G | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2007 | 2016 | ||||||||
|
0.925 | 0.040 | 17 | 30216371 | intron variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
1.000 | 0.040 | 3 | 124671722 | missense variant | C/A;T | snv | 2.3E-04; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
1.000 | 0.040 | 22 | 19971146 | intron variant | G/A | snv | 0.55 |
|
0.020 | 1.000 | 2 | 2009 | 2009 | ||||||||
|
0.925 | 0.040 | 21 | 25891795 | missense variant | G/A | snv | 4.0E-05 | 4.2E-05 |
|
0.020 | 1.000 | 2 | 1994 | 1995 | |||||||
|
1.000 | 0.040 | 5 | 161332649 | intron variant | A/G | snv | 0.45 |
|
0.020 | 1.000 | 2 | 2006 | 2008 | ||||||||
|
1.000 | 0.040 | 6 | 32061449 | stop gained | A/G;T | snv | 0.69; 4.1E-06 |
|
0.020 | 1.000 | 2 | 2004 | 2007 | ||||||||
|
0.925 | 0.040 | 22 | 19940569 | intron variant | G/A;T | snv |
|
0.020 | 0.500 | 2 | 2007 | 2009 | |||||||||
|
1.000 | 0.040 | 7 | 86792916 | intron variant | T/C | snv | 0.40 |
|
0.020 | 1.000 | 2 | 2008 | 2017 | ||||||||
|
1.000 | 0.040 | 14 | 81270732 | missense variant | A/C;T | snv | 0.52; 4.0E-06 |
|
0.020 | 0.500 | 2 | 2011 | 2013 | ||||||||
|
1.000 | 0.040 | 4 | 99949218 | non coding transcript exon variant | T/A;G | snv |
|
0.020 | 1.000 | 2 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 7 | 86818264 | intron variant | T/G | snv | 2.3E-02 |
|
0.020 | < 0.001 | 2 | 2005 | 2008 | ||||||||
|
1.000 | 0.040 | 7 | 126580415 | intron variant | C/A | snv | 0.30 |
|
0.020 | 1.000 | 2 | 2004 | 2014 | ||||||||
|
1.000 | 0.040 | 2 | 57995793 | intron variant | T/C | snv | 0.70 |
|
0.820 | 1.000 | 2 | 2009 | 2016 | ||||||||
|
1.000 | 0.040 | 2 | 37365485 | intron variant | C/A;T | snv |
|
0.820 | 0.667 | 2 | 2013 | 2016 | |||||||||
|
0.925 | 0.040 | 4 | 94449654 | upstream gene variant | G/A | snv | 0.37 |
|
0.020 | 1.000 | 2 | 2006 | 2008 | ||||||||
|
0.925 | 0.040 | 4 | 94458590 | intron variant | A/G | snv | 0.37 |
|
0.020 | 1.000 | 2 | 2006 | 2008 | ||||||||
|
1.000 | 0.040 | 8 | 22503739 | intron variant | A/C;G | snv |
|
0.020 | 1.000 | 2 | 2007 | 2011 | |||||||||
|
0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv |
|
0.720 | 0.750 | 2 | 2013 | 2019 | |||||||||
|
0.925 | 0.040 | 6 | 15620624 | intron variant | C/A;G | snv |
|
0.020 | 1.000 | 2 | 2008 | 2009 | |||||||||
|
0.882 | 0.040 | 18 | 55481790 | intron variant | A/T | snv | 0.72 |
|
0.020 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.925 | 0.040 | 5 | 1445501 | upstream gene variant | A/T | snv | 0.50 |
|
0.020 | 1.000 | 2 | 2010 | 2020 | ||||||||
|
1.000 | 0.040 | 4 | 109710465 | 3 prime UTR variant | A/G | snv | 0.49 |
|
0.020 | 1.000 | 2 | 2016 | 2018 |