| 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 | 0.120 | 6 | 28106103 | intron variant | G/A | snv | 5.0E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 22 | 29010231 | intron variant | A/T | snv | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 22 | 28876649 | intergenic variant | C/T | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.240 | 11 | 65571690 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.080 | 19 | 51942133 | intron variant | T/C | snv | 0.24 |
|
0.710 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 19 | 42224684 | missense variant | T/C | snv | 0.11 | 7.7E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 19 | 43919418 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.080 | 16 | 49797677 | intron variant | A/G | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 7 | 99478208 | intron variant | T/C | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 10 | 38105003 | intron variant | -/CTTT | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 10 | 62518923 | intron variant | G/A | snv | 0.16 |
|
0.770 | 1.000 | 11 | 2010 | 2017 | ||||||||
|
0.851 | 0.080 | 10 | 62492218 | intron variant | C/T | snv | 0.42 |
|
0.720 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
1.000 | 0.080 | 10 | 62540131 | intron variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.080 | 10 | 62501439 | intron variant | A/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 19 | 51964950 | missense variant | T/A | snv | 0.16 | 0.14 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 19 | 51968619 | missense variant | A/G | snv | 0.20 | 0.24 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 19 | 51965039 | missense variant | A/G | snv | 3.1E-02 | 2.7E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.080 | 19 | 53576890 | synonymous variant | A/G | snv | 0.70 | 0.76 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 20 | 53567166 | 3 prime UTR variant | C/A;T | snv | 8.8E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 6 | 27457865 | intron variant | G/C | snv | 4.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.080 | 10 | 79081391 | intron variant | T/C | snv | 0.71 |
|
0.720 | 1.000 | 6 | 2010 | 2017 | ||||||||
|
0.925 | 0.080 | 10 | 79085654 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.080 | 10 | 79092621 | intron variant | A/G | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 6 | 28364364 | intron variant | G/A | snv | 5.2E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 14 | 67766404 | missense variant | C/T | snv | 8.8E-05 | 9.1E-05 |
|
0.020 | 1.000 | 2 | 2011 | 2011 |