| 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 | 1 | 36696751 | intergenic variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 7 | 110434219 | intron variant | C/T | snv | 0.34 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 197518575 | intron variant | G/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 8 | 32089718 | intron variant | A/G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 10 | 66919791 | intron variant | T/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 121923220 | intron variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 6 | 29445191 | intron variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 16 | 66565888 | splice region variant | G/A | snv | 1.1E-03 | 1.2E-03 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 4 | 117837640 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 2 | 199712044 | intron variant | T/C | snv | 4.0E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 196463011 | intron variant | G/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins |
|
0.050 | 1.000 | 5 | 2007 | 2019 | |||||||||
|
1.000 | 0.040 | 5 | 148552638 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.040 | 3 | 120395790 | 3 prime UTR variant | C/T | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 11 | 117860724 | intron variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 11 | 117838930 | non coding transcript exon variant | T/G | snv | 4.0E-02 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.160 | 21 | 29598863 | synonymous variant | G/A | snv | 0.18 | 0.17 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
1.000 | 0.040 | 7 | 87713270 | 5 prime UTR variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 11 | 117293049 | splice region variant | C/A;T | snv | 0.74 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 11 | 117874288 | intron variant | G/A | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 11 | 117874334 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 3 | 139531807 | intron variant | A/G | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |