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 | 0.080 | 1 | 209721316 | intron variant | G/A | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.120 | 4 | 6291188 | intron variant | A/G | snv | 0.66 | 0.63 |
|
0.060 | 1.000 | 6 | 2009 | 2013 | |||||||
|
1.000 | 0.080 | 4 | 140568842 | 5 prime UTR variant | T/G | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 4 | 6291623 | intron variant | T/C | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.160 | 7 | 29388454 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.763 | 0.360 | 2 | 191105153 | intron variant | G/C | snv | 0.79 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 2 | 164656581 | intron variant | T/C | snv | 0.48 |
|
0.810 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
1.000 | 0.080 | 4 | 23864492 | intron variant | A/G | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.732 | 0.280 | 4 | 24800161 | missense variant | G/C | snv | 1.6E-04 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 7 | 127606849 | downstream gene variant | G/A | snv | 0.23 |
|
0.820 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
0.882 | 0.200 | 17 | 34253212 | upstream gene variant | T/A | snv | 0.85 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.030 | 1.000 | 3 | 2014 | 2019 | ||||||||
|
0.925 | 0.080 | 7 | 95586935 | non coding transcript exon variant | A/G | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.160 | 7 | 36819038 | non coding transcript exon variant | A/G | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.160 | 6 | 39048860 | missense variant | C/T | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 6 | 39079018 | missense variant | G/A | snv | 1.0E-02 | 1.1E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 20 | 44424278 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.160 | 6 | 151873899 | intron variant | G/A | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.080 | 7 | 44151050 | missense variant | A/G | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.882 | 0.120 | 2 | 162147429 | missense variant | T/C | snv | 1.4E-05 |
|
0.040 | 0.500 | 4 | 1996 | 2002 | ||||||||
|
0.807 | 0.320 | 1 | 203186952 | upstream gene variant | T/A;C | snv |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||||
|
0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 |
|
0.030 | 0.667 | 3 | 2005 | 2010 | |||||||
|
0.807 | 0.200 | 19 | 45679046 | intron variant | T/A | snv | 0.19 |
|
0.020 | 1.000 | 2 | 2012 | 2016 |