| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv |
|
0.830 | 1.000 | 2 | 2009 | 2016 | |||||||||
|
0.851 | 0.120 | 1 | 152578800 | downstream gene variant | A/G;T | snv |
|
0.820 | 1.000 | 2 | 2009 | 2011 | |||||||||
|
0.807 | 0.120 | 5 | 159402519 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2016 | |||||||||
|
0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 |
|
0.810 | 1.000 | 1 | 2010 | 2018 | ||||||||
|
1.000 | 0.040 | 1 | 152618666 | downstream gene variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 6 | 111352511 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2010 | 2015 | |||||||||
|
0.925 | 0.040 | 5 | 96783569 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.752 | 0.320 | 19 | 10362257 | splice region variant | A/C;G | snv | 0.50 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.040 | 11 | 128536543 | non coding transcript exon variant | A/G;T | snv |
|
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 | |||||||||
|
0.925 | 0.040 | 1 | 152619708 | downstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 1 | 152617711 | downstream gene variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.040 | 1 | 24966593 | upstream gene variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 5 | 159345574 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.790 | 0.320 | 6 | 31464003 | non coding transcript exon variant | T/G | snv | 2.7E-02 | 2.4E-02 |
|
0.820 | 1.000 | 1 | 2008 | 2014 | |||||||
|
0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 |
|
0.810 | 1.000 | 1 | 2012 | 2018 | |||||||
|
0.925 | 0.040 | 12 | 56356420 | intron variant | C/T | snv | 4.9E-02 | 4.5E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.900 | 0.857 | 1 | 2008 | 2018 | |||||||
|
0.925 | 0.040 | 5 | 151087628 | 5 prime UTR variant | G/C;T | snv | 4.8E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
0.925 | 0.080 | 6 | 111374888 | missense variant | T/C | snv | 5.9E-02 | 5.6E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.851 | 0.160 | 5 | 151098757 | downstream gene variant | G/A | snv | 7.1E-02 |
|
0.820 | 1.000 | 2 | 2009 | 2015 | ||||||||
|
1.000 | 0.040 | 19 | 1312729 | intergenic variant | G/A | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 9 | 136501661 | intron variant | T/A | snv | 8.5E-02 |
|
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 | ||||||||
|
1.000 | 0.040 | 6 | 111334327 | intron variant | G/A | snv | 8.7E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2015 |