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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 1.000 | 11 | 2003 | 2015 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.090 | 0.889 | 9 | 2004 | 2014 | |||||||||
|
0.763 | 0.200 | 1 | 221991606 | regulatory region variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
0.790 | 0.080 | 1 | 183112059 | intron variant | A/C | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
0.790 | 0.080 | 1 | 22261235 | regulatory region variant | T/C | snv | 6.2E-02 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.280 | 1 | 210816167 | intron variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.790 | 0.080 | 1 | 54782179 | intron variant | A/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.080 | 1 | 54780362 | 3 prime UTR variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.120 | 1 | 202952912 | intron variant | C/T | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.120 | 1 | 202945228 | intron variant | T/C | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.080 | 1 | 221939292 | intron variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.708 | 0.280 | 1 | 1351675 | upstream gene variant | G/A | snv | 6.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 1 | 245018119 | intron variant | T/C | snv | 1.5E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 1 | 239918447 | upstream gene variant | A/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.280 | 1 | 155212052 | non coding transcript exon variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.120 | 1 | 159710123 | upstream gene variant | G/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.120 | 1 | 226363128 | missense variant | T/C;G | snv | 1.2E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.672 | 0.360 | 1 | 45331833 | missense variant | C/A;G | snv | 0.29 | 0.27 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.710 | 1.000 | 1 | 2015 | 2015 |