| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 19 | 41352923 | missense variant | A/C;G | snv | 1.9E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.882 | 0.200 | 2 | 47806279 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.790 | 0.200 | 15 | 33866065 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.925 | 0.080 | 15 | 66481818 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 7 | 5987422 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 17 | 7674971 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.790 | 0.080 | 7 | 46887097 | downstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.080 | 16 | 78042662 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.708 | 0.280 | 12 | 49251457 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.080 | 10 | 112962862 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.716 | 0.120 | 17 | 7675097 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.827 | 0.160 | 17 | 7673794 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.708 | 0.280 | 6 | 31347004 | intron variant | A/G | snv |
|
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 | |||||||||
|
0.776 | 0.080 | 12 | 42740389 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 12 | 47879066 | missense variant | A/C;G | snv | 4.0E-06; 1.9E-03 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.708 | 0.280 | 20 | 34131991 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |