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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.240 | 12 | 57768956 | missense variant | A/G | snv | 0.38 | 0.33 |
|
0.840 | 0.800 | 1 | 2009 | 2019 | |||||||
|
1.000 | 0.080 | 1 | 10293054 | intron variant | T/C | snv | 0.32 |
|
0.830 | 1.000 | 1 | 2008 | 2011 | ||||||||
|
0.925 | 0.160 | 3 | 105867870 | intron variant | T/A;C | snv |
|
0.830 | 0.750 | 1 | 2010 | 2017 | |||||||||
|
1.000 | 0.080 | 17 | 59946914 | 3 prime UTR variant | A/G | snv | 0.33 |
|
0.820 | 1.000 | 1 | 2011 | 2017 | ||||||||
|
0.790 | 0.400 | 20 | 54174979 | upstream gene variant | C/T | snv | 0.47 |
|
0.820 | 1.000 | 1 | 2011 | 2016 | ||||||||
|
0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 |
|
0.820 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
1.000 | 0.080 | 3 | 122077921 | splice region variant | G/A | snv | 7.0E-02 |
|
0.820 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
0.925 | 0.120 | 13 | 92679633 | intron variant | G/A | snv | 0.39 |
|
0.820 | 1.000 | 1 | 2009 | 2013 | ||||||||
|
1.000 | 0.080 | 2 | 230242009 | intron variant | C/T | snv | 0.13 |
|
0.810 | 1.000 | 1 | 2011 | 2015 | ||||||||
|
0.925 | 0.120 | 19 | 6668961 | intron variant | C/G;T | snv |
|
0.810 | 1.000 | 1 | 2011 | 2013 | |||||||||
|
1.000 | 0.080 | 3 | 27747289 | intergenic variant | C/T | snv | 0.39 |
|
0.810 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
0.882 | 0.160 | 6 | 135418217 | intron variant | C/A | snv | 0.28 |
|
0.810 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
1.000 | 0.080 | 1 | 92682820 | intron variant | C/T | snv | 0.20 |
|
0.810 | 1.000 | 1 | 2011 | 2017 | ||||||||
|
0.925 | 0.120 | 8 | 78488803 | intron variant | A/G | snv | 0.40 |
|
0.810 | 1.000 | 1 | 2011 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 137131771 | intergenic variant | A/G | snv | 0.20 |
|
0.810 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
0.851 | 0.320 | 16 | 85984057 | intron variant | G/A | snv | 0.15 |
|
0.810 | 1.000 | 1 | 2009 | 2011 | ||||||||
|
0.925 | 0.120 | 4 | 102657480 | intron variant | G/A | snv | 0.50 |
|
0.810 | 1.000 | 1 | 2011 | 2013 | ||||||||
|
1.000 | 0.080 | 16 | 1023552 | intergenic variant | A/G | snv | 0.15 |
|
0.810 | 1.000 | 1 | 2011 | 2013 | ||||||||
|
1.000 | 0.080 | 20 | 1225242 | upstream gene variant | T/A;C | snv |
|
0.810 | 1.000 | 1 | 2009 | 2011 | |||||||||
|
0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv |
|
0.810 | 1.000 | 1 | 2011 | 2018 | |||||||||
|
0.925 | 0.160 | 20 | 63778360 | intron variant | C/G;T | snv |
|
0.810 | 1.000 | 1 | 2011 | 2019 | |||||||||
|
0.851 | 0.240 | 20 | 46111557 | TF binding site variant | C/G;T | snv |
|
0.810 | 1.000 | 1 | 2009 | 2013 | |||||||||
|
1.000 | 0.080 | 11 | 118883644 | upstream gene variant | C/A | snv | 0.13 |
|
0.810 | 1.000 | 1 | 2011 | 2013 | ||||||||
|
0.925 | 0.160 | 5 | 56142753 | intron variant | C/A | snv | 0.20 |
|
0.810 | 1.000 | 1 | 2011 | 2016 | ||||||||
|
0.925 | 0.120 | 6 | 32624423 | upstream gene variant | T/C | snv | 0.76 |
|
0.810 | 1.000 | 1 | 2013 | 2019 |