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 |
|
0.080 | 0.875 | 8 | 2002 | 2017 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.050 | 1.000 | 5 | 2011 | 2017 | |||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.030 | 1.000 | 3 | 2008 | 2016 | ||||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
0.020 | 0.500 | 2 | 2009 | 2019 | |||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2008 | 2016 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.851 | 0.240 | 1 | 203186870 | upstream gene variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 1 | 204556440 | 3 prime UTR variant | G/C;T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.200 | 1 | 204559956 | downstream gene variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.763 | 0.240 | 1 | 204519150 | intron variant | G/C | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.160 | 1 | 241881973 | missense variant | C/A;G;T | snv | 0.96 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.807 | 0.160 | 1 | 241879243 | missense variant | A/G | snv | 0.66 | 0.66 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||||
|
0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 1 | 225831952 | synonymous variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.776 | 0.240 | 1 | 241846814 | upstream gene variant | A/G | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||||
|
0.732 | 0.440 | 1 | 209815925 | intergenic variant | A/G | snv | 0.84 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.160 | 1 | 203187994 | upstream gene variant | G/A | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.637 | 0.640 | 1 | 186681619 | upstream gene variant | T/C | snv | 0.17 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 |