| 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 | 6 | 34829464 | intron variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
1.000 | 0.080 | 16 | 11080508 | intron variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 |
|
0.890 | 1.000 | 2 | 2008 | 2019 | ||||||||
|
0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 |
|
0.880 | 1.000 | 2 | 2008 | 2019 | ||||||||
|
0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 |
|
0.850 | 1.000 | 2 | 2008 | 2017 | ||||||||
|
0.776 | 0.240 | 5 | 160452971 | intron variant | T/C | snv | 0.44 |
|
0.840 | 1.000 | 2 | 2008 | 2017 | ||||||||
|
0.882 | 0.120 | 11 | 589564 | intron variant | T/C | snv | 0.64 |
|
0.830 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
0.851 | 0.280 | 11 | 128441164 | intergenic variant | G/A;T | snv |
|
0.820 | 1.000 | 2 | 2009 | 2015 | |||||||||
|
0.827 | 0.160 | 7 | 128928906 | intergenic variant | A/C | snv | 0.28 |
|
0.820 | 1.000 | 2 | 2008 | 2013 | ||||||||
|
0.851 | 0.160 | 11 | 128459064 | 3 prime UTR variant | C/T | snv | 0.11 |
|
0.810 | 1.000 | 2 | 2010 | 2016 | ||||||||
|
1.000 | 0.080 | 12 | 128816149 | intron variant | C/T | snv | 9.1E-02 |
|
0.810 | 1.000 | 2 | 2009 | 2016 | ||||||||
|
0.752 | 0.440 | 6 | 31753256 | intron variant | G/A | snv | 6.4E-02 | 7.9E-02 |
|
0.810 | 1.000 | 2 | 2008 | 2016 | |||||||
|
0.851 | 0.240 | 1 | 173257056 | intergenic variant | T/G | snv | 0.29 |
|
0.810 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 73981235 | non coding transcript exon variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 |
|
0.780 | 1.000 | 2 | 2009 | 2018 | |||||||
|
0.732 | 0.360 | 19 | 10364976 | missense variant | C/A | snv | 0.27 | 0.23 |
|
0.770 | 1.000 | 2 | 2009 | 2019 | |||||||
|
0.763 | 0.400 | 2 | 191105394 | intron variant | C/G | snv | 0.77 |
|
0.740 | 1.000 | 2 | 2008 | 2017 | ||||||||
|
0.827 | 0.240 | 1 | 183563445 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 3.4E-02 |
|
0.720 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 |
|
0.720 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 |
|
0.720 | 1.000 | 2 | 2009 | 2015 | ||||||||
|
0.882 | 0.200 | 2 | 30222160 | intergenic variant | T/C;G | snv |
|
0.720 | 1.000 | 2 | 2013 | 2017 | |||||||||
|
1.000 | 0.080 | 11 | 35076646 | intergenic variant | T/A;C | snv |
|
0.710 | 1.000 | 2 | 2011 | 2016 | |||||||||
|
1.000 | 0.080 | 5 | 134096143 | intergenic variant | C/T | snv | 0.15 |
|
0.710 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 213025508 | intron variant | G/T | snv | 0.78 |
|
0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
1.000 | 0.080 | 12 | 128794319 | synonymous variant | A/G | snv | 0.44 | 0.43 |
|
0.700 | 1.000 | 2 | 2015 | 2017 |