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 | 0.080 | 7 | 157000756 | intron variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 6 | 20665715 | intron variant | -/C | delins | 4.9E-05 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 11 | 17387124 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 2 | 240594824 | intron variant | -/CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC | delins |
|
0.720 | 1.000 | 0 | 2010 | 2011 | |||||||||
|
1.000 | 0.080 | 5 | 52798410 | intron variant | -/T | delins | 0.91 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | X | 57144348 | intergenic variant | -/T;TT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 1 | 154337120 | intron variant | A/- | del | 0.69 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | X | 118781201 | intron variant | A/-;AA;AAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.160 | 3 | 185811292 | intron variant | A/C | snv | 0.46 |
|
0.900 | 0.963 | 11 | 2007 | 2017 | ||||||||
|
1.000 | 0.080 | 11 | 72722053 | 5 prime UTR variant | A/C | snv | 0.12 |
|
0.820 | 1.000 | 6 | 2010 | 2018 | ||||||||
|
0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 |
|
0.900 | 1.000 | 3 | 2007 | 2019 | ||||||||
|
1.000 | 0.080 | 2 | 226228869 | intergenic variant | A/C | snv | 0.75 |
|
0.800 | 1.000 | 3 | 2012 | 2017 | ||||||||
|
0.925 | 0.120 | 9 | 4291928 | intron variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.080 | 18 | 60381959 | intron variant | A/C | snv | 0.12 |
|
0.800 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
1.000 | 0.080 | 11 | 2828300 | intron variant | A/C | snv | 0.10 |
|
0.760 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
1.000 | 0.080 | 8 | 10775649 | intron variant | A/C | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.200 | 9 | 4293150 | intron variant | A/C | snv | 0.57 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 17 | 36032377 | intergenic variant | A/C | snv | 1.0E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 3 | 23245193 | intron variant | A/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 2 | 57069423 | intergenic variant | A/C | snv | 0.78 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 3 | 185793096 | intron variant | A/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 5 | 50927276 | downstream gene variant | A/C | snv | 3.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 9 | 17147193 | intron variant | A/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 6 | 20657781 | intron variant | A/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 1 | 72387303 | intron variant | A/C | snv | 4.1E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |