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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.925 | 0.160 | 4 | 2831573 | missense variant | G/A;C | snv |
|
0.020 | 1.000 | 2 | 2012 | 2014 | |||||||||
|
0.925 | 0.160 | 7 | 94423065 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.240 | 11 | 68357673 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | X | 32485069 | missense variant | G/A | snv | 9.5E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.080 | 17 | 50195926 | synonymous variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.695 | 0.400 | X | 48909843 | missense variant | C/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 12 | 121184717 | missense variant | T/A | snv | 1.5E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.776 | 0.360 | 8 | 118952044 | upstream gene variant | G/A | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.480 | 16 | 10877045 | intron variant | G/A | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 11 | 68309770 | upstream gene variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.120 | 8 | 118911634 | regulatory region variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.701 | 0.360 | 21 | 43063074 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.790 | 0.280 | 17 | 50196337 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.240 | 17 | 50193990 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.851 | 0.160 | 15 | 51266534 | intron variant | G/A | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.611 | 0.720 | 22 | 23894205 | intron variant | G/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.763 | 0.240 | 21 | 43063074 | coding sequence variant | -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG | delins |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 13 | 42573888 | intron variant | T/C | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 50197009 | splice donor variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 17 | 50360241 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 0 |