| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 |
|
0.760 | 0.857 | 7 | 2008 | 2019 | ||||||||
|
0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 |
|
0.740 | 1.000 | 5 | 2006 | 2019 | |||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.720 | 1.000 | 3 | 2019 | 2019 | ||||||||
|
0.807 | 0.160 | 1 | 182112825 | intron variant | C/T | snv | 0.36 |
|
0.710 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.710 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.742 | 0.400 | 19 | 11116926 | synonymous variant | C/T | snv | 0.39 | 0.34 |
|
0.710 | 1.000 | 2 | 2008 | 2014 | |||||||
|
0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 |
|
0.710 | 1.000 | 2 | 2016 | 2019 | |||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.710 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
11 | 117286177 | 3 prime UTR variant | G/A;C;T | snv |
|
0.710 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
20 | 63264568 | intron variant | A/C | snv | 0.87 |
|
0.710 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
6 | 41655295 | downstream gene variant | G/T | snv | 0.19 |
|
0.710 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
5 | 1877166 | downstream gene variant | A/C;T | snv |
|
0.710 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
4 | 87834676 | intron variant | T/A;C | snv | 6.1E-05; 0.94 |
|
0.710 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
5 | 88477501 | intron variant | G/A | snv | 5.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 32832368 | regulatory region variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.080 | 2 | 65049318 | intron variant | T/C | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
8 | 26542619 | intron variant | G/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 7 | 151716108 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
8 | 58399138 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
19 | 10222312 | 3 prime UTR variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
17 | 78796097 | 3 prime UTR variant | G/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 14735055 | 3 prime UTR variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 4868325 | intron variant | G/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 18156159 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
8 | 101803258 | intron variant | C/A | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |