| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 11 | 94470587 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.160 | 19 | 17283315 | missense variant | T/G | snv | 0.48 | 0.50 |
|
0.720 | 1.000 | 3 | 2010 | 2019 | |||||||
|
0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 |
|
0.020 | 1.000 | 2 | 2011 | 2012 | |||||||
|
0.851 | 0.080 | 6 | 151597721 | intron variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.120 | 19 | 17282085 | missense variant | G/A | snv | 0.47 | 0.47 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.776 | 0.200 | 14 | 68567965 | intron variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 17 | 43063889 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 17 | 43063911 | synonymous variant | T/C;G | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.080 | 17 | 43093454 | missense variant | C/A;T | snv | 5.8E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.732 | 0.280 | 2 | 47783349 | missense variant | G/A;C;T | snv | 0.18; 8.6E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.080 | 2 | 47791055 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.827 | 0.080 | 12 | 28002147 | intergenic variant | A/G | snv | 8.9E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.080 | 2 | 47799482 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.080 | 19 | 50401817 | missense variant | G/A | snv | 0.11 | 0.14 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.716 | 0.320 | 16 | 13935176 | missense variant | G/A | snv | 5.6E-02 | 5.3E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 5 | 80854162 | missense variant | A/G;T | snv | 0.87 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.689 | 0.280 | 5 | 83204915 | missense variant | G/T | snv | 2.3E-02 | 1.4E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.080 | 16 | 13935425 | missense variant | T/C | snv | 3.6E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |