| 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 | 9 | 109053060 | intron variant | C/A | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.807 | 0.200 | 4 | 110799605 | downstream gene variant | T/G | snv | 0.86 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
8 | 39912430 | intron variant | G/C | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.807 | 0.120 | 2 | 85581859 | 3 prime UTR variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.827 | 0.120 | 9 | 21853340 | intron variant | A/G | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.807 | 0.320 | 21 | 31667849 | intron variant | C/T | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.200 | 19 | 45679046 | intron variant | T/A | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.807 | 0.160 | 21 | 31664078 | intron variant | T/G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 9 | 6225535 | intron variant | A/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.120 | 19 | 15192033 | synonymous variant | T/A;C | snv | 4.0E-06; 0.85 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
6 | 12295228 | intron variant | G/A | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.732 | 0.320 | 15 | 73927205 | missense variant | G/T | snv | 0.33 | 0.28 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.160 | 11 | 18040935 | 5 prime UTR variant | T/A | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.200 | 19 | 53810809 | stop gained | G/A | snv | 1.5E-04 | 4.3E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.160 | 13 | 77943119 | intron variant | A/G | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 15 | 89665079 | 3 prime UTR variant | A/T | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.776 | 0.280 | 10 | 94981296 | missense variant | A/C;G | snv | 6.3E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.120 | 12 | 12259861 | intron variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
12 | 2681964 | missense variant | C/T | snv | 4.0E-06; 0.78 | 0.71 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |