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 | 0.040 | 5 | 159345574 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.807 | 0.120 | 17 | 27797882 | intron variant | G/A | snv | 0.11 |
|
0.810 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
0.882 | 0.280 | 17 | 27779649 | intron variant | A/G | snv | 0.31 |
|
0.820 | 1.000 | 1 | 2010 | 2015 | ||||||||
|
1.000 | 0.040 | 9 | 136501661 | intron variant | T/A | snv | 8.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 18 | 54293380 | intron variant | C/T | snv | 0.26 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 14 | 35212966 | intron variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2010 | 2015 | ||||||||
|
0.925 | 0.040 | 19 | 10707416 | intron variant | G/A | snv | 0.57 | 0.59 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | |||||||
|
0.807 | 0.120 | 11 | 110091706 | intron variant | A/G | snv | 0.36 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
1.000 | 0.040 | 6 | 111352511 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2010 | 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 | |||||||
|
1.000 | 0.040 | 6 | 111334327 | intron variant | G/A | snv | 8.7E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2015 | ||||||||
|
0.807 | 0.120 | 16 | 11271643 | intron variant | C/T | snv | 0.32 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
0.925 | 0.040 | 20 | 49939692 | intron variant | C/T | snv | 0.34 |
|
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 | 18 | 63989551 | intron variant | T/C | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.040 | 17 | 80205094 | missense variant | C/T | snv | 0.41 | 0.40 |
|
0.840 | 1.000 | 1 | 2012 | 2016 | |||||||
|
0.882 | 0.120 | 16 | 11254001 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 20 | 49905793 | synonymous variant | G/A | snv | 0.44 | 0.35 |
|
0.810 | 1.000 | 2 | 2008 | 2015 | |||||||
|
0.807 | 0.280 | 12 | 56344189 | intron variant | A/G | snv | 0.21 |
|
0.810 | 1.000 | 3 | 2009 | 2015 | ||||||||
|
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 | 16 | 30993491 | splice region variant | T/C | snv | 0.39 | 0.38 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.827 | 0.240 | 6 | 137878280 | intron variant | G/T | snv | 0.58 |
|
0.860 | 1.000 | 3 | 2009 | 2015 | ||||||||
|
0.776 | 0.320 | 6 | 137876687 | intron variant | C/T | snv | 0.70 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
0.925 | 0.040 | 5 | 151087628 | 5 prime UTR variant | G/C;T | snv | 4.8E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
1.000 | 0.040 | 5 | 151089865 | intron variant | C/T | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2010 | 2010 |