| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv |
|
0.720 | 1.000 | 14 | 1989 | 2017 | |||||||||
|
0.827 | 0.160 | 19 | 3118944 | missense variant | A/C;T | snv |
|
0.750 | 1.000 | 9 | 1989 | 2018 | |||||||||
|
0.925 | 0.200 | 7 | 140753353 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 3 | 2002 | 2014 | |||||||||
|
0.851 | 0.200 | 9 | 21971183 | missense variant | A/C;T | snv | 4.6E-06 |
|
0.020 | 1.000 | 2 | 2003 | 2010 | ||||||||
|
1.000 | 0.040 | 4 | 54727418 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
0.925 | 0.120 | 16 | 90000528 | non coding transcript exon variant | A/C;T | snv |
|
0.800 | 1.000 | 2 | 2009 | 2017 | |||||||||
|
0.851 | 0.280 | 7 | 140753350 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 12 | 3038296 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.851 | 0.080 | 4 | 54733173 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.050 | 1.000 | 5 | 2009 | 2016 | |||||||
|
0.790 | 0.160 | 9 | 21816529 | intron variant | A/G | snv | 0.50 |
|
0.810 | 1.000 | 5 | 2009 | 2017 | ||||||||
|
0.925 | 0.040 | 19 | 7909761 | missense variant | A/G | snv |
|
0.020 | 1.000 | 2 | 2005 | 2015 | |||||||||
|
1.000 | 0.040 | 4 | 54727464 | missense variant | A/G | snv |
|
0.700 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
0.851 | 0.080 | 2 | 201298088 | intron variant | A/G | snv | 0.59 |
|
0.800 | 1.000 | 2 | 2011 | 2017 | ||||||||
|
0.851 | 0.160 | 22 | 38148291 | non coding transcript exon variant | A/G | snv | 0.40 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 |
|
0.020 | 0.500 | 2 | 2013 | 2015 | ||||||||
|
1.000 | 0.040 | 4 | 54727488 | missense variant | A/G | snv |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.080 | 9 | 107947454 | regulatory region variant | A/G | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.040 | 4 | 109963240 | synonymous variant | A/G | snv | 9.7E-03 | 1.0E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 16 | 89979578 | non coding transcript exon variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 3 | 69941240 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 |