| 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 | 0.120 | 18 | 77097372 | non coding transcript exon variant | C/T | snv | 0.34 |
|
0.710 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 6 | 32194075 | intron variant | G/A | snv | 0.21 |
|
0.710 | 1.000 | 1 | 2011 | 2016 | ||||||||
|
0.882 | 0.200 | 6 | 32193589 | intron variant | T/C | snv | 0.21 |
|
0.710 | 1.000 | 1 | 2007 | 2016 | ||||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
0.710 | 1.000 | 1 | 2007 | 2011 | |||||||
|
0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 |
|
0.710 | 1.000 | 1 | 2005 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 31616154 | non coding transcript exon variant | C/T | snv | 0.15 | 0.14 |
|
0.710 | 1.000 | 1 | 2007 | 2009 | |||||||
|
1.000 | 0.120 | 6 | 33096828 | intron variant | G/A;T | snv |
|
0.710 | 1.000 | 1 | 2009 | 2011 | |||||||||
|
0.827 | 0.320 | 1 | 157699488 | intron variant | C/A;G;T | snv |
|
0.710 | 1.000 | 1 | 2006 | 2015 | |||||||||
|
0.882 | 0.160 | 10 | 6351298 | non coding transcript exon variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2008 | 2012 | |||||||||
|
1.000 | 0.120 | 1 | 113875221 | intron variant | G/A;T | snv |
|
0.710 | 1.000 | 1 | 2009 | 2017 | |||||||||
|
1.000 | 0.120 | 6 | 31034236 | intron variant | G/A | snv | 0.20 |
|
0.710 | 1.000 | 1 | 2007 | 2017 | ||||||||
|
1.000 | 0.120 | 1 | 17087404 | intron variant | T/A | snv | 0.32 |
|
0.710 | 1.000 | 1 | 2016 | 2019 | ||||||||
|
0.925 | 0.160 | 6 | 32634492 | intron variant | G/T | snv | 0.29 |
|
0.710 | 1.000 | 1 | 2011 | 2014 | ||||||||
|
0.724 | 0.440 | 6 | 33087084 | 3 prime UTR variant | A/G | snv | 0.25 |
|
0.710 | 1.000 | 1 | 2007 | 2018 | ||||||||
|
0.925 | 0.120 | 13 | 39760715 | intron variant | C/G | snv | 0.30 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 1 | 17118274 | intron variant | G/T | snv | 0.55 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.200 | 2 | 186628015 | intron variant | G/A | snv | 0.62 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.120 | 7 | 34820377 | intron variant | G/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.807 | 0.200 | 2 | 201288355 | 3 prime UTR variant | T/C;G | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 5 | 33596119 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.120 | 17 | 12224359 | intergenic variant | T/C | snv | 8.8E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |