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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.200 | 6 | 30037466 | intron variant | A/G | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 6 | 30060575 | non coding transcript exon variant | G/A | snv | 9.8E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 9 | 106925122 | missense variant | A/G | snv | 0.14 | 0.13 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.080 | 1 | 23362976 | missense variant | G/A | snv | 4.0E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.827 | 0.160 | 10 | 31510820 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.080 | 10 | 31510817 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.732 | 0.200 | 22 | 21630090 | upstream gene variant | G/A | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.080 | 3 | 195137645 | intron variant | G/A | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.080 | 20 | 21354475 | intron variant | T/C | snv | 0.89 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.752 | 0.320 | 22 | 41619761 | intron variant | C/T | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.776 | 0.280 | 22 | 41635949 | intron variant | C/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.724 | 0.320 | 5 | 83076846 | intron variant | G/A;T | snv |
|
0.020 | 0.500 | 2 | 2009 | 2011 | |||||||||
|
0.701 | 0.280 | 5 | 83075927 | intron variant | T/G | snv | 9.2E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
0.742 | 0.240 | 5 | 83076927 | intron variant | C/T | snv | 1.7E-02 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.763 | 0.200 | 5 | 83075876 | intron variant | C/T | snv | 0.32 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.708 | 0.240 | 5 | 83142293 | intron variant | GATGAGGAAACTAACTCTCAGTGGTGTTTA/- | delins | 0.48 |
|
0.020 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
0.882 | 0.080 | 5 | 83177826 | intron variant | A/G | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.689 | 0.280 | 5 | 83204915 | missense variant | G/T | snv | 2.3E-02 | 1.4E-02 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.080 | 5 | 83100768 | intron variant | G/A | snv | 7.3E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.240 | 19 | 43575535 | 5 prime UTR variant | G/A | snv | 0.65 | 0.60 |
|
0.020 | 1.000 | 2 | 2014 | 2015 |