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 | 0.080 | 4 | 88322666 | intron variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.750 | 1.000 | 6 | 2011 | 2019 | ||||||||
|
1.000 | 0.080 | 8 | 127359926 | intron variant | A/G | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 |
|
0.730 | 1.000 | 5 | 2010 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 19212878 | intron variant | G/C;T | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 5 | 56857565 | intron variant | T/C | snv | 5.8E-02 |
|
0.710 | 1.000 | 1 | 2014 | 2016 | ||||||||
|
1.000 | 0.080 | 7 | 94758031 | intergenic variant | G/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 5 | 58888234 | regulatory region variant | T/A;C | snv |
|
0.700 | 1.000 | 3 | 2013 | 2017 | |||||||||
|
0.925 | 0.080 | 5 | 91436408 | intron variant | C/T | snv | 0.23 |
|
0.710 | 1.000 | 2 | 2014 | 2017 | ||||||||
|
1.000 | 0.080 | 10 | 121568362 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 3 | 63982224 | missense variant | A/G | snv | 0.14; 1.2E-05 | 0.10 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | |||||||
|
0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 14 | 104745924 | non coding transcript exon variant | -/TT | ins | 0.56 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 123142307 | intron variant | -/TTCAC | delins | 0.72 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 92022864 | protein altering variant | -/AAC | delins | 0.39 | 0.46 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 9 | 107543834 | upstream gene variant | C/A;T | snv |
|
0.710 | 1.000 | 3 | 2013 | 2017 | |||||||||
|
1.000 | 0.080 | 9 | 126634155 | intron variant | G/A | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.080 | 12 | 28002147 | intergenic variant | A/G | snv | 8.9E-02 |
|
0.750 | 1.000 | 4 | 2012 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 155446537 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.200 | 9 | 22067594 | intron variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 9 | 108074792 | regulatory region variant | A/G | snv | 6.5E-02 |
|
0.710 | 1.000 | 1 | 2015 | 2017 | ||||||||
|
0.851 | 0.080 | 10 | 62492218 | intron variant | C/T | snv | 0.42 |
|
0.720 | 1.000 | 1 | 2011 | 2016 | ||||||||
|
0.882 | 0.080 | 10 | 53506471 | intergenic variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 10503552 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 16 | 74438798 | intron variant | C/T | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2009 | 2009 |