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 | 8 | 41661730 | non coding transcript exon variant | T/A;C | snv | 0.78 |
|
0.820 | 1.000 | 4 | 2012 | 2018 | ||||||||
|
0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 |
|
0.900 | 0.906 | 4 | 1998 | 2019 | ||||||||
|
0.925 | 0.120 | 15 | 77454848 | intron variant | A/G | snv | 0.63 |
|
0.810 | 1.000 | 4 | 2011 | 2017 | ||||||||
|
0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 |
|
0.900 | 0.964 | 4 | 2007 | 2019 | ||||||||
|
1.000 | 0.080 | 13 | 26207391 | intron variant | G/A | snv | 0.19 |
|
0.800 | 1.000 | 3 | 2014 | 2019 | ||||||||
|
1.000 | 0.080 | 12 | 27812217 | intergenic variant | C/T | snv | 0.15 |
|
0.800 | 1.000 | 3 | 2012 | 2018 | ||||||||
|
0.925 | 0.120 | 10 | 79182874 | intron variant | A/G | snv | 0.46 |
|
0.810 | 0.750 | 3 | 2012 | 2017 | ||||||||
|
0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 |
|
0.730 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
1.000 | 0.080 | 3 | 23413299 | intron variant | A/G | snv | 0.26 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
1.000 | 0.080 | 4 | 6301295 | missense variant | C/A;G;T | snv | 0.67 |
|
0.810 | 1.000 | 3 | 2010 | 2018 | ||||||||
|
0.925 | 0.120 | 15 | 89831025 | 3 prime UTR variant | C/A | snv | 0.72 |
|
0.820 | 1.000 | 3 | 2011 | 2018 | ||||||||
|
1.000 | 0.080 | 11 | 2837210 | intron variant | G/A;T | snv |
|
0.810 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
0.882 | 0.200 | 11 | 2837316 | intron variant | C/T | snv | 8.1E-02 |
|
0.880 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 2670241 | non coding transcript exon variant | A/G | snv | 0.62 |
|
0.840 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
0.882 | 0.120 | 9 | 22132077 | downstream gene variant | A/G;T | snv | 0.18 |
|
0.810 | 1.000 | 3 | 2009 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 81501185 | intron variant | T/A;C | snv |
|
0.710 | 1.000 | 3 | 2017 | 2018 | |||||||||
|
1.000 | 0.080 | 2 | 226228869 | intergenic variant | A/C | snv | 0.75 |
|
0.800 | 1.000 | 3 | 2012 | 2017 | ||||||||
|
1.000 | 0.080 | 3 | 186947857 | intron variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
0.882 | 0.120 | 2 | 164645339 | intergenic variant | A/C;G;T | snv |
|
0.810 | 1.000 | 3 | 2011 | 2017 | |||||||||
|
0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 |
|
0.870 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
0.882 | 0.120 | 3 | 64726228 | intron variant | C/T | snv | 0.28 |
|
0.840 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
0.925 | 0.120 | 20 | 44360627 | intron variant | G/A | snv | 0.18 |
|
0.830 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
0.851 | 0.120 | 10 | 92705802 | downstream gene variant | C/T | snv | 0.42 |
|
0.900 | 0.941 | 3 | 2007 | 2019 | ||||||||
|
0.925 | 0.080 | X | 153634467 | regulatory region variant | A/G | snv | 0.25 |
|
0.810 | 1.000 | 3 | 2010 | 2014 | ||||||||
|
1.000 | 0.080 | 3 | 188022735 | intergenic variant | T/A;C;G | snv |
|
0.800 | 1.000 | 3 | 2014 | 2018 |