| 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 | 0.120 | 8 | 47936435 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.080 | 17 | 48726959 | missense variant | C/T | snv | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.160 | 6 | 160412632 | intron variant | C/T | snv | 0.21 |
|
0.710 | 1.000 | 4 | 2008 | 2018 | ||||||||
|
0.742 | 0.240 | 1 | 241885372 | missense variant | C/T | snv | 0.21 | 0.19 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 13 | 27968862 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 |
|
0.050 | 0.800 | 5 | 2012 | 2017 | ||||||||
|
0.763 | 0.240 | 2 | 31529325 | missense variant | C/T | snv | 4.7E-04 | 1.6E-04 |
|
0.020 | 1.000 | 2 | 2001 | 2005 | |||||||
|
0.851 | 0.120 | 8 | 16232964 | intron variant | C/T | snv | 0.87 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 2 | 20678393 | 3 prime UTR variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 22 | 25225156 | intron variant | C/A | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.200 | 6 | 33020918 | intergenic variant | T/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 10570604 | downstream gene variant | C/T | snv | 0.60 |
|
0.700 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
0.851 | 0.120 | 14 | 64227477 | 3 prime UTR variant | C/T | snv | 0.66 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 3 | 87103019 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.716 | 0.320 | 2 | 31580756 | missense variant | C/T | snv | 1.8E-02 | 2.1E-02 |
|
0.100 | 0.556 | 18 | 1999 | 2017 | |||||||
|
0.925 | 0.080 | 19 | 50850345 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 21 | 38383632 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.851 | 0.120 | 2 | 212323745 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.080 | 12 | 52880120 | regulatory region variant | G/A | snv | 0.12 |
|
0.710 | 1.000 | 3 | 2011 | 2018 | ||||||||
|
0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 2 | 100935633 | intron variant | T/C | snv | 0.84 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 19 | 41479716 | intron variant | T/C | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.776 | 0.280 | 4 | 24799565 | missense variant | C/T | snv | 8.8E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 |