| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 1.000 | 2 | 2007 | 2010 | |||||||||
|
1.000 | 0.040 | 11 | 114526440 | intron variant | -/C;CCACTCTCTTCCTC | ins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 20 | 44436388 | non coding transcript exon variant | A/C | snv | 0.62 |
|
0.810 | 1.000 | 5 | 2009 | 2017 | ||||||||
|
0.827 | 0.120 | 17 | 72646784 | 3 prime UTR variant | A/C | snv | 0.18 |
|
0.700 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
1.000 | 0.040 | 7 | 107862996 | intergenic variant | A/C | snv | 0.34 |
|
0.800 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.827 | 0.120 | 17 | 27542007 | intron variant | A/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.160 | 2 | 191066738 | intron variant | A/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | 8 | 125527723 | intron variant | A/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.040 | 2 | 218286495 | 5 prime UTR variant | A/C | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | 11 | 112164016 | 5 prime UTR variant | A/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.040 | 3 | 119818407 | 3 prime UTR variant | A/C | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.120 | 1 | 161504083 | upstream gene variant | A/C | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 17 | 72645559 | downstream gene variant | A/C | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 16 | 50712383 | 3 prime UTR variant | A/C | snv | 1.3E-02 | 1.4E-02 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.850 | 1.000 | 9 | 2009 | 2018 | ||||||||
|
1.000 | 0.040 | 7 | 2750246 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 3 | 2011 | 2017 | |||||||||
|
0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.742 | 0.280 | 12 | 10118488 | stop gained | A/C;G | snv | 6.2E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 18 | 12802118 | missense variant | A/C;G | snv | 1.6E-04; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.280 | 11 | 117994131 | missense variant | A/C;G | snv | 8.2E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.752 | 0.320 | 19 | 10362257 | splice region variant | A/C;G | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 1 | 19874497 | intergenic variant | A/C;G | snv | 0.53 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 16 | 50723350 | missense variant | A/C;G | snv | 1.7E-04; 4.4E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |