| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 6 | 32332045 | stop gained | G/A | snv | 0.19 | 0.23 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 32331815 | intron variant | G/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 22 | 19750832 | intergenic variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 1 | 17118274 | intron variant | G/T | snv | 0.55 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 8 | 14611016 | intron variant | C/A | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 8 | 21125392 | intron variant | G/A | snv | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.200 | 9 | 127813796 | 3 prime UTR variant | T/C | snv | 0.45 |
|
0.020 | 1.000 | 2 | 2017 | 2020 | ||||||||
|
0.776 | 0.400 | 2 | 191071078 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
0.882 | 0.200 | 2 | 186628015 | intron variant | G/A | snv | 0.62 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.724 | 0.200 | 2 | 191108308 | intron variant | G/A | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 2 | 30226728 | upstream gene variant | G/A | snv | 0.51 |
|
0.800 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.763 | 0.360 | 2 | 191105153 | intron variant | G/C | snv | 0.79 |
|
0.820 | 1.000 | 3 | 2012 | 2017 | ||||||||
|
1.000 | 0.120 | 6 | 32313911 | intron variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 32313899 | intron variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 32313733 | intron variant | A/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 32313583 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.200 | 2 | 60877850 | intron variant | A/T | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.120 | 2 | 100056230 | intron variant | C/T | snv | 0.47 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.120 | 7 | 34820377 | intron variant | G/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.120 | 7 | 101299780 | non coding transcript exon variant | G/A | snv | 7.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 6 | 32339605 | missense variant | G/A | snv | 0.40 | 0.33 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 30400858 | intergenic variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 2 | 2007 | 2009 |