| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 7 | 100717894 | upstream gene variant | A/G | snv | 0.84 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv |
|
0.810 | 1.000 | 1 | 2008 | 2012 | |||||||||
|
1.000 | 0.040 | 19 | 10402235 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
1.000 | 0.040 | 6 | 105987150 | regulatory region variant | A/G | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 5 | 10695414 | intron variant | T/C | snv | 0.49 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 6 | 111526988 | intron variant | A/T | snv | 9.7E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
1.000 | 0.040 | 16 | 11279463 | intron variant | C/T | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.752 | 0.320 | 9 | 114806486 | upstream gene variant | A/G | snv | 0.74 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.080 | 9 | 114830358 | regulatory region variant | T/C | snv | 7.2E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 7 | 117252792 | intergenic variant | T/C | snv | 0.52 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 11 | 118883644 | upstream gene variant | C/A | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 4 | 122240464 | intron variant | A/G | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
12 | 12504579 | intron variant | A/G | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 8 | 125522429 | intron variant | A/G | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 |
|
0.810 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
8 | 129611859 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||||
|
5 | 130681594 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.925 | 0.040 | 1 | 1312114 | synonymous variant | T/A;C;G | snv | 0.56 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.882 | 0.160 | 5 | 132435113 | intron variant | C/T | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.925 | 0.040 | 9 | 136371953 | synonymous variant | G/A | snv | 0.41 | 0.38 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||
|
0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.827 | 0.120 | 5 | 142133639 | intron variant | A/T | snv | 0.67 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
6 | 143577757 | intron variant | A/G | snv | 4.8E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||||
|
0.882 | 0.120 | 6 | 14719265 | intron variant | G/A | snv | 0.74 |
|
0.800 | 1.000 | 1 | 2012 | 2017 |