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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.710 | 1.000 | 1 | 2015 | 2016 | ||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.750 | 1.000 | 6 | 2011 | 2019 | ||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.900 | 0.895 | 2 | 2003 | 2017 | ||||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
0.740 | 0.875 | 4 | 2013 | 2017 | |||||||
|
0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 |
|
0.740 | 0.800 | 1 | 2016 | 2019 | ||||||||
|
0.649 | 0.320 | 5 | 1295234 | upstream gene variant | A/G | snv | 0.25 |
|
0.740 | 0.800 | 1 | 2016 | 2018 | ||||||||
|
0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 |
|
0.900 | 0.953 | 11 | 2007 | 2019 | ||||||||
|
0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 |
|
0.730 | 1.000 | 5 | 2010 | 2017 | ||||||||
|
0.677 | 0.440 | 4 | 105140377 | intron variant | C/A | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.689 | 0.360 | 11 | 69227030 | intergenic variant | T/G | snv | 0.58 |
|
0.710 | 1.000 | 1 | 2008 | 2016 | ||||||||
|
0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 |
|
0.800 | 0.972 | 2 | 2007 | 2019 | ||||||||
|
0.695 | 0.280 | 10 | 121575416 | intron variant | G/A;T | snv | 0.34 |
|
0.720 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.701 | 0.320 | 6 | 30374976 | intergenic variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.701 | 0.280 | 19 | 17279482 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.701 | 0.280 | 13 | 32295727 | 3 prime UTR variant | G/A | snv | 3.5E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.701 | 0.280 | 3 | 169043635 | intergenic variant | A/G | snv | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 |
|
0.900 | 1.000 | 5 | 2009 | 2019 | ||||||||
|
0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 |
|
0.730 | 0.800 | 2 | 2013 | 2018 | ||||||||
|
0.708 | 0.280 | 1 | 210816167 | intron variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.280 | 12 | 49251457 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.708 | 0.280 | 6 | 31347004 | intron variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.708 | 0.280 | 13 | 32394673 | intron variant | T/C | snv | 6.6E-03 | 6.0E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.708 | 0.280 | 14 | 68559662 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.280 | 20 | 34131991 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |