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 | 0.240 | 1 | 67294457 | intergenic variant | T/C | snv | 0.45 |
|
0.840 | 0.800 | 4 | 2010 | 2019 | ||||||||
|
0.790 | 0.360 | 1 | 206771300 | intron variant | T/C | snv | 0.71 |
|
0.830 | 1.000 | 3 | 2010 | 2015 | ||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.830 | 0.800 | 3 | 2010 | 2017 | ||||||||
|
0.790 | 0.280 | 1 | 67287825 | intergenic variant | C/T | snv | 0.55 |
|
0.820 | 1.000 | 2 | 2010 | 2017 | ||||||||
|
0.882 | 0.240 | 5 | 96783162 | missense variant | C/G;T | snv | 2.8E-05; 0.15 |
|
0.820 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
1.000 | 0.200 | 12 | 10408358 | missense variant | T/C | snv | 0.63 | 0.61 |
|
0.820 | 1.000 | 2 | 2013 | 2017 | |||||||
|
0.827 | 0.440 | 3 | 159947262 | intron variant | A/G | snv | 8.2E-02 |
|
0.810 | 1.000 | 1 | 2013 | 2015 | ||||||||
|
1.000 | 0.200 | 2 | 191145762 | intron variant | A/C | snv | 0.55 |
|
0.810 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
0.925 | 0.280 | 3 | 46164194 | intron variant | C/T | snv | 0.62 |
|
0.810 | 1.000 | 1 | 2013 | 2015 | ||||||||
|
1.000 | 0.200 | 7 | 150549936 | intergenic variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv |
|
0.710 | 0.500 | 1 | 2013 | 2017 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.090 | 1.000 | 9 | 2000 | 2019 | |||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.070 | 0.714 | 7 | 2003 | 2016 | ||||||||
|
0.790 | 0.360 | 1 | 67189464 | intron variant | G/A | snv | 0.29 |
|
0.050 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 |
|
0.050 | 0.800 | 5 | 2000 | 2015 | ||||||||
|
0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 |
|
0.040 | 1.000 | 4 | 2000 | 2015 | ||||||||
|
0.752 | 0.400 | 1 | 67274409 | upstream gene variant | G/A | snv | 0.30 |
|
0.030 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
1.000 | 0.200 | 6 | 31381371 | downstream gene variant | G/A | snv |
|
0.030 | 1.000 | 3 | 2013 | 2015 | |||||||||
|
0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 |
|
0.030 | 0.667 | 3 | 2000 | 2013 | ||||||||
|
0.790 | 0.320 | 1 | 206770888 | 5 prime UTR variant | A/G;T | snv | 0.72 |
|
0.030 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 |
|
0.030 | 1.000 | 3 | 2001 | 2016 | |||||||
|
0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 |
|
0.030 | 0.667 | 3 | 2012 | 2017 | |||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2005 | 2014 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.030 | 1.000 | 3 | 2014 | 2019 | |||||||
|
0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 1996 | 2013 |