| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.200 | 15 | 58431476 | intron variant | C/G;T | snv | 0.30 |
|
0.800 | 1.000 | 5 | 2012 | 2019 | ||||||||
|
0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 4 | 2010 | 2019 | |||||||||
|
8 | 125470379 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 4 | 2017 | 2019 | |||||||||||
|
20 | 45925376 | downstream gene variant | T/A;C;G | snv |
|
0.800 | 1.000 | 4 | 2010 | 2019 | |||||||||||
|
1 | 62652525 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 3 | 2009 | 2019 | |||||||||||
|
4 | 3442204 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||||
|
8 | 18415790 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||||
|
15 | 43434427 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 3 | 2016 | 2019 | |||||||||||
|
0.851 | 0.120 | 1 | 62583922 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2008 | 2019 | |||||||||
|
0.882 | 0.160 | 11 | 116782580 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
11 | 116748357 | 3 prime UTR variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2008 | 2019 | |||||||||||
|
1.000 | 0.080 | 16 | 81501185 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||
|
10 | 50814012 | missense variant | C/A;T | snv | 4.0E-06; 5.3E-03 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||||
|
22 | 38150026 | non coding transcript exon variant | T/A;C | snv |
|
0.800 | 1.000 | 3 | 2010 | 2018 | |||||||||||
|
0.925 | 0.120 | 2 | 21014672 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 3 | 2009 | 2019 | |||||||||
|
1 | 62583880 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
11 | 116780399 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
16 | 30907166 | intron variant | C/A;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
1.000 | 0.120 | 1 | 62531167 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||
|
8 | 10826419 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
7 | 73448919 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
0.925 | 0.160 | 8 | 19966981 | 3 prime UTR variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2011 | 2018 | |||||||||
|
17 | 43797377 | downstream gene variant | C/A | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
5 | 157052312 | intron variant | G/A;C | snv | 6.2E-03; 0.67 |
|
0.700 | 1.000 | 2 | 2015 | 2018 |