| 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 | 0.080 | 19 | 47158236 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 2 | 2011 | 2016 | |||||||||
|
0.827 | 0.320 | 1 | 157699488 | intron variant | C/A;G;T | snv |
|
0.710 | 1.000 | 2 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | X | 97839482 | intergenic variant | C/G;T | snv |
|
0.020 | 0.500 | 2 | 2011 | 2019 | |||||||||
|
1.000 | 0.080 | 20 | 1225242 | upstream gene variant | T/A;C | snv |
|
0.810 | 1.000 | 2 | 2009 | 2011 | |||||||||
|
1.000 | 0.080 | 3 | 121941817 | 3 prime UTR variant | A/C;G | snv |
|
0.800 | 1.000 | 2 | 2011 | 2016 | |||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2003 | 2005 | ||||||||
|
0.851 | 0.240 | 20 | 46111557 | TF binding site variant | C/G;T | snv |
|
0.810 | 1.000 | 2 | 2009 | 2013 | |||||||||
|
0.763 | 0.480 | 6 | 32696074 | intergenic variant | C/A;T | snv |
|
0.800 | 1.000 | 2 | 2007 | 2015 | |||||||||
|
0.925 | 0.080 | 6 | 31279290 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2007 | 2010 | |||||||||
|
0.882 | 0.160 | 10 | 92722160 | intergenic variant | G/A;T | snv |
|
0.800 | 1.000 | 2 | 2011 | 2013 | |||||||||
|
1.000 | 0.080 | 15 | 90434101 | intron variant | G/A;T | snv |
|
0.710 | 1.000 | 2 | 2013 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 143707136 | intron variant | G/A;C;T | snv |
|
0.020 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
1.000 | 0.080 | 5 | 142119476 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.160 | 16 | 3254380 | missense variant | C/G;T | snv | 6.3E-04 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.320 | 16 | 3243403 | missense variant | T/A;C | snv | 8.0E-06; 5.2E-03 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.240 | 12 | 6334161 | missense variant | A/C;G | snv | 1.6E-04; 4.8E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 6 | 29726650 | non coding transcript exon variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 1 | 161502368 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 2 | 9109909 | upstream gene variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.763 | 0.280 | 11 | 128511079 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 11 | 61008833 | frameshift variant | -/T | ins | 5.1E-06; 5.1E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 |