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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 |
|
0.700 | 1.000 | 8 | 2008 | 2013 | ||||||||
|
0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 6 | 2009 | 2013 | |||||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.700 | 1.000 | 6 | 2009 | 2013 | ||||||||
|
0.882 | 0.120 | 16 | 56951227 | regulatory region variant | A/G | snv | 0.55 |
|
0.700 | 1.000 | 6 | 2008 | 2014 | ||||||||
|
0.882 | 0.080 | 8 | 19986711 | intergenic variant | A/G | snv | 1.0E-01 |
|
0.700 | 1.000 | 5 | 2009 | 2013 | ||||||||
|
0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 |
|
0.700 | 1.000 | 5 | 2008 | 2013 | ||||||||
|
0.807 | 0.120 | 9 | 104902020 | intron variant | C/T | snv | 0.28 |
|
0.700 | 1.000 | 5 | 2009 | 2013 | ||||||||
|
0.925 | 0.080 | 1 | 230159944 | intron variant | G/A | snv | 0.45 |
|
0.700 | 1.000 | 5 | 2008 | 2013 | ||||||||
|
0.925 | 0.080 | 8 | 19990179 | intergenic variant | C/A | snv | 8.4E-02 |
|
0.700 | 1.000 | 4 | 2008 | 2012 | ||||||||
|
0.851 | 0.160 | 16 | 56971567 | intron variant | C/A | snv | 0.34 |
|
0.700 | 1.000 | 4 | 2009 | 2013 | ||||||||
|
0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 |
|
0.700 | 1.000 | 4 | 2009 | 2013 | |||||||
|
1.000 | 0.040 | 18 | 49655298 | downstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 4 | 2008 | 2012 | |||||||||
|
0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 |
|
0.700 | 1.000 | 4 | 2010 | 2013 | ||||||||
|
0.827 | 0.040 | 16 | 56981179 | missense variant | G/C | snv | 5.2E-02 | 3.7E-02 |
|
0.700 | 1.000 | 4 | 2008 | 2014 | |||||||
|
16 | 56972678 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 4 | 2011 | 2012 | |||||||||||
|
0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 |
|
0.700 | 1.000 | 3 | 2009 | 2012 | ||||||||
|
0.925 | 0.160 | 8 | 19966981 | 3 prime UTR variant | T/A;C | snv |
|
0.700 | 1.000 | 3 | 2012 | 2012 | |||||||||
|
0.851 | 0.200 | 7 | 73568544 | 3 prime UTR variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 3 | 2010 | 2013 | ||||||||
|
0.882 | 0.120 | 16 | 56963321 | intron variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 3 | 2008 | 2012 | ||||||||
|
0.807 | 0.120 | 15 | 58431740 | intron variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 3 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 16 | 67991092 | intron variant | G/A | snv | 0.17 | 0.17 |
|
0.700 | 1.000 | 3 | 2008 | 2012 | |||||||
|
0.925 | 0.120 | 9 | 104885374 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 3 | 2008 | 2012 | |||||||||
|
1.000 | 0.040 | 15 | 58382496 | intron variant | G/C | snv | 0.24 |
|
0.700 | 1.000 | 3 | 2008 | 2012 | ||||||||
|
0.851 | 0.320 | 16 | 56960982 | upstream gene variant | G/A | snv | 0.48 | 0.47 |
|
0.700 | 1.000 | 3 | 2012 | 2012 | |||||||
|
0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 |
|
0.700 | 1.000 | 3 | 2008 | 2012 |