| 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 | 6 | 108666024 | intron variant | -/GGT | delins | 0.14 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.240 | 5 | 159387525 | intron variant | A/C | snv | 0.78 |
|
0.810 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
0.827 | 0.120 | 17 | 27542007 | intron variant | A/C | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.925 | 0.120 | 5 | 142099500 | regulatory region variant | A/C | snv | 0.80 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 6 | 32691666 | regulatory region variant | A/C | snv | 3.4E-03 |
|
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 | ||||||||
|
0.827 | 0.120 | 17 | 72646784 | 3 prime UTR variant | A/C | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
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 | 1 | 161504083 | upstream gene variant | A/C | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 15 | 90638257 | non coding transcript exon variant | A/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 17 | 42355962 | intron variant | A/C | snv | 0.36 |
|
0.810 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 |
|
0.800 | 1.000 | 3 | 2010 | 2016 | ||||||||
|
1.000 | 0.040 | 5 | 130768383 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 17 | 42418754 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.040 | 10 | 58187470 | downstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
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 | 0.120 | 10 | 62655424 | missense variant | A/C;G | snv | 0.80 |
|
0.810 | 1.000 | 1 | 2011 | 2012 | ||||||||
|
0.827 | 0.120 | 6 | 20624151 | intron variant | A/C;G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 16 | 11655918 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 19 | 1124836 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.724 | 0.240 | 9 | 136369144 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 2 | 62325186 | regulatory region variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.120 | 2 | 62333197 | regulatory region variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |