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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.020 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 |
|
0.020 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.732 | 0.320 | 15 | 51236915 | synonymous variant | T/C | snv | 0.43 | 0.40 |
|
0.020 | 1.000 | 2 | 2013 | 2015 | |||||||
|
0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.827 | 0.080 | 12 | 28002147 | intergenic variant | A/G | snv | 8.9E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.080 | 10 | 62492218 | intron variant | C/T | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 10 | 62518923 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.080 | 12 | 115398717 | regulatory region variant | A/G | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 2 | 217029040 | intergenic variant | G/A | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 3 | 172550013 | regulatory region variant | T/C | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.080 | 8 | 116197325 | intron variant | A/G | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.732 | 0.280 | 2 | 217041109 | intergenic variant | A/G | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.080 | 5 | 158817075 | intron variant | C/T | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.080 | 10 | 62501439 | intron variant | A/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 2 | 218841159 | upstream gene variant | C/T | snv | 1.3E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.160 | 15 | 98960571 | 3 prime UTR variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 11 | 125389528 | intron variant | A/G | snv | 5.3E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.040 | 20 | 54162422 | intron variant | T/C | snv | 0.22 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.120 | 15 | 51242798 | missense variant | A/G | snv | 3.4E-03 | 9.1E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.080 | 20 | 34000289 | intron variant | T/C;G | snv |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | |||||||||
|
0.776 | 0.160 | 19 | 17283315 | missense variant | T/G | snv | 0.48 | 0.50 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 5 | 142614908 | intron variant | G/A | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2013 | 2013 |