| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 4 | 154586432 | frameshift variant | TTCCAGT/- | del | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.160 | 19 | 11105557 | inframe deletion | TGG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.909 | 11 | 2006 | 2018 | |||||||||
|
0.807 | 0.200 | 4 | 110799605 | downstream gene variant | T/G | snv | 0.86 |
|
0.030 | 0.667 | 3 | 2008 | 2016 | ||||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
0.030 | 1.000 | 3 | 2009 | 2014 | |||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
0.020 | 1.000 | 2 | 2016 | 2019 | |||||||
|
0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 |
|
0.020 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.752 | 0.440 | 1 | 169594713 | missense variant | T/G | snv | 8.2E-02 | 7.5E-02 |
|
0.020 | 0.500 | 2 | 2006 | 2009 | |||||||
|
1.000 | 0.080 | 2 | 170076012 | intron variant | T/G | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 12 | 33053704 | intergenic variant | T/G | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 13 | 65253855 | regulatory region variant | T/G | snv | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 21 | 42199555 | upstream gene variant | T/G | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 7 | 139845571 | intron variant | T/G | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 20 | 23508073 | intron variant | T/G | snv | 3.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.360 | 1 | 206771607 | intron variant | T/G | snv | 8.0E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 2 | 42372465 | intron variant | T/G | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 17 | 49514247 | 3 prime UTR variant | T/G | snv | 9.7E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 3 | 186836503 | intergenic variant | T/G | snv | 0.86 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.160 | 19 | 11100255 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 |
|
0.020 | 0.500 | 2 | 2011 | 2015 | ||||||||
|
0.851 | 0.160 | 5 | 149428408 | non coding transcript exon variant | T/C;G | snv |
|
0.020 | 0.500 | 2 | 2016 | 2019 | |||||||||
|
0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 11 | 89473343 | intron variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 5 | 60491814 | non coding transcript exon variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 |