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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.160 | 21 | 44286092 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 9 | 21367884 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.480 | 18 | 63318540 | missense variant | C/T | snv | 1.8E-02 | 4.9E-03 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 11 | 102799765 | intron variant | C/- | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.040 | 11 | 102845217 | upstream gene variant | A/-;AA | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.120 | 1 | 230713948 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.732 | 0.360 | 19 | 7747847 | upstream gene variant | A/G | snv | 0.26 |
|
0.020 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
1.000 | 0.080 | 3 | 106193283 | intron variant | T/C | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
9 | 131127544 | synonymous variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | 7 | 22733108 | downstream gene variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 2 | 112833698 | intron variant | A/G | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
12 | 112446327 | synonymous variant | A/G | snv | 1.6E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 12 | 56346844 | stop gained | G/C;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.200 | 9 | 36036597 | upstream gene variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 |