| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.800 | 0.959 | 387 | 2003 | 2019 | ||||||||
|
0.925 | 0.080 | 12 | 65598856 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 2 | 217429494 | intron variant | C/G | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 4 | 76936952 | intergenic variant | G/A | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 1 | 233280792 | intron variant | T/C | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 1 | 107816883 | intron variant | T/C | snv | 9.1E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 8 | 32543285 | intron variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 9 | 97898464 | intergenic variant | T/C | snv | 9.4E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 3 | 59559604 | intron variant | G/A | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 13 | 108209596 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 13 | 32338880 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 0.956 | 367 | 2003 | 2019 | |||||||||
|
0.742 | 0.200 | 14 | 36180040 | upstream gene variant | C/T | snv | 0.45 |
|
0.100 | 0.833 | 12 | 2010 | 2019 | ||||||||
|
0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv |
|
0.100 | 0.917 | 12 | 2011 | 2017 | |||||||||
|
0.776 | 0.160 | 9 | 97853632 | 5 prime UTR variant | A/G | snv | 0.63 |
|
0.080 | 0.750 | 8 | 2011 | 2017 | ||||||||
|
0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.070 | 0.857 | 7 | 2004 | 2019 | ||||||||
|
0.776 | 0.200 | 8 | 32574851 | intron variant | G/C | snv | 0.54 |
|
0.050 | 1.000 | 5 | 2013 | 2018 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.040 | 0.750 | 4 | 2008 | 2018 | |||||||
|
0.683 | 0.360 | 10 | 113588287 | missense variant | G/A | snv | 2.2E-02 | 2.4E-02 |
|
0.040 | 1.000 | 4 | 2016 | 2018 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.030 | 1.000 | 3 | 2009 | 2016 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.030 | 1.000 | 3 | 2009 | 2016 | |||||||||
|
0.776 | 0.120 | 14 | 36269155 | regulatory region variant | C/T | snv | 2.3E-02 |
|
0.030 | 1.000 | 3 | 2013 | 2019 | ||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.030 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.030 | 1.000 | 3 | 2011 | 2018 |