| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.280 | 6 | 31344549 | intron variant | T/G | snv | 8.8E-02 |
|
0.800 | 1.000 | 1 | 2007 | 2008 | ||||||||
|
0.827 | 0.160 | 1 | 152577542 | downstream gene variant | T/G | snv | 0.59 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 5 | 159323761 | intron variant | C/G;T | snv | 0.26 |
|
0.800 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
1.000 | 0.040 | 20 | 45352086 | upstream gene variant | T/C | snv | 0.79 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 17 | 22180454 | intron variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.752 | 0.320 | 19 | 10362257 | splice region variant | A/C;G | snv | 0.50 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 6 | 111374888 | missense variant | T/C | snv | 5.9E-02 | 5.6E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 3 | 18742931 | intron variant | A/G | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.120 | 1 | 152578800 | downstream gene variant | A/G;T | snv |
|
0.820 | 1.000 | 1 | 2009 | 2011 | |||||||||
|
0.925 | 0.040 | 20 | 49939692 | intron variant | C/T | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.120 | 2 | 62324337 | intergenic variant | A/G | snv | 0.57 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 9 | 108054739 | regulatory region variant | A/G | snv | 0.44 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 1 | 8208035 | intron variant | G/A | snv | 0.26 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 16 | 30993491 | splice region variant | T/C | snv | 0.39 | 0.38 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.080 | 10 | 79273128 | intron variant | G/A | snv | 0.32 |
|
0.810 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 10 | 79272775 | intron variant | A/G | snv | 0.36 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.160 | 5 | 132660753 | 3 prime UTR variant | A/G | snv | 0.81 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 6 | 31387342 | intergenic variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 12 | 56356420 | intron variant | C/T | snv | 4.9E-02 | 4.5E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.040 | 5 | 96783569 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.040 | 11 | 128536543 | non coding transcript exon variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 5 | 159377920 | intron variant | G/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 6 | 31298313 | intron variant | G/A | snv | 8.6E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 16 | 11254001 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.240 | 22 | 21625000 | downstream gene variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2012 | 2012 |