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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.200 | 4 | 110799605 | downstream gene variant | T/G | snv | 0.86 |
|
0.900 | 0.933 | 1 | 2007 | 2019 | ||||||||
|
0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 |
|
0.900 | 0.917 | 1 | 2010 | 2016 | ||||||||
|
0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 |
|
0.900 | 1.000 | 1 | 2010 | 2019 | ||||||||
|
0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 |
|
0.900 | 1.000 | 1 | 2010 | 2018 | |||||||
|
0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 |
|
0.900 | 1.000 | 1 | 2008 | 2016 | ||||||||
|
0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 |
|
0.900 | 0.923 | 1 | 2007 | 2019 | ||||||||
|
0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 |
|
0.900 | 0.939 | 1 | 2009 | 2020 | ||||||||
|
0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 |
|
0.900 | 0.900 | 1 | 2006 | 2019 | ||||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.900 | 0.857 | 1 | 2008 | 2018 | |||||||
|
0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 |
|
0.900 | 0.900 | 1 | 2010 | 2020 | ||||||||
|
0.732 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 |
|
0.900 | 1.000 | 1 | 2009 | 2019 | |||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.900 | 1.000 | 1 | 2004 | 2019 | ||||||||
|
0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv |
|
0.900 | 0.873 | 1 | 2008 | 2019 | |||||||||
|
0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 |
|
0.900 | 0.893 | 1 | 2011 | 2019 | ||||||||
|
0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 |
|
0.900 | 0.905 | 1 | 2008 | 2019 | ||||||||
|
0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 |
|
0.900 | 1.000 | 1 | 1996 | 2015 | |||||||
|
0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 |
|
0.900 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 |
|
0.900 | 0.933 | 1 | 2005 | 2019 | |||||||
|
0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv |
|
0.900 | 0.889 | 1 | 2008 | 2019 | |||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.900 | 0.980 | 1 | 2005 | 2019 | |||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.900 | 0.857 | 1 | 2005 | 2019 | |||||||
|
0.732 | 0.360 | 5 | 96788627 | missense variant | T/A;C | snv | 0.62 |
|
0.900 | 0.957 | 1 | 2009 | 2020 | ||||||||
|
0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 |
|
0.900 | 0.925 | 1 | 2006 | 2019 | |||||||
|
0.763 | 0.240 | 11 | 1219991 | splice region variant | G/A;T | snv |
|
0.900 | 0.971 | 1 | 2011 | 2019 | |||||||||
|
0.790 | 0.200 | 19 | 1046521 | intron variant | T/G | snv | 0.14 |
|
0.900 | 1.000 | 1 | 2011 | 2019 |