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 | 9925343 | intron variant | T/G | snv | 0.39 |
|
0.800 | 1.000 | 3 | 2009 | 2018 | ||||||||
|
0.882 | 0.160 | 4 | 9993558 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 3 | 2009 | 2019 | |||||||||
|
0.827 | 0.240 | 4 | 9992591 | intron variant | C/T | snv | 0.82 |
|
0.800 | 1.000 | 3 | 2009 | 2017 | ||||||||
|
0.882 | 0.200 | 4 | 9995266 | intron variant | T/C | snv | 0.82 |
|
0.800 | 1.000 | 2 | 2009 | 2018 | ||||||||
|
0.827 | 0.200 | 4 | 9920543 | missense variant | C/T | snv | 0.24 | 0.29 |
|
0.800 | 1.000 | 2 | 2008 | 2016 | |||||||
|
0.925 | 0.120 | 4 | 10284677 | downstream gene variant | C/T | snv | 0.18 |
|
0.800 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
0.882 | 0.160 | 4 | 88169725 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2009 | 2015 | |||||||||
|
0.925 | 0.120 | 4 | 10399599 | intergenic variant | T/C | snv | 0.26 |
|
0.800 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
0.925 | 0.120 | 4 | 9918723 | intron variant | T/C | snv | 0.51 |
|
0.800 | 1.000 | 1 | 2009 | 2015 | ||||||||
|
0.925 | 0.120 | 11 | 64593233 | intron variant | C/T | snv | 0.51 |
|
0.800 | 1.000 | 1 | 2009 | 2015 | ||||||||
|
0.925 | 0.120 | 1 | 145711946 | upstream gene variant | T/G | snv | 0.44 |
|
0.800 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
0.925 | 0.120 | 6 | 25821388 | intron variant | T/A;G | snv |
|
0.800 | 1.000 | 1 | 2009 | 2013 | |||||||||
|
0.925 | 0.120 | 6 | 25818538 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2015 | |||||||||
|
0.925 | 0.120 | 6 | 25827288 | intron variant | A/G | snv | 0.65 |
|
0.800 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
0.882 | 0.200 | 6 | 25812922 | missense variant | G/A | snv | 0.62 | 0.66 |
|
0.800 | 1.000 | 1 | 2009 | 2018 | |||||||
|
0.925 | 0.120 | 6 | 25870314 | intron variant | T/A;G | snv |
|
0.800 | 1.000 | 1 | 2008 | 2009 | |||||||||
|
0.925 | 0.120 | 6 | 25801091 | intron variant | G/A | snv | 0.66 |
|
0.800 | 1.000 | 1 | 2009 | 2015 | ||||||||
|
0.851 | 0.160 | 4 | 9914117 | intron variant | C/T | snv | 0.32 |
|
0.800 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
0.925 | 0.120 | 6 | 25776721 | missense variant | G/A | snv | 0.36 | 0.32 |
|
0.800 | 1.000 | 1 | 2009 | 2011 | |||||||
|
0.925 | 0.120 | 6 | 25823216 | intron variant | A/T | snv | 0.65 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 1 | 145709377 | upstream gene variant | C/T | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 10 | 59653595 | intron variant | A/G | snv | 0.12 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 4 | 9942428 | intron variant | A/G | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2009 | 2013 | ||||||||
|
0.925 | 0.120 | 4 | 10497720 | intron variant | T/C | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 1 | 2009 | 2019 |