| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 2 | 96143592 | 3 prime UTR variant | T/C | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.776 | 0.120 | 1 | 202945228 | intron variant | T/C | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.752 | 0.280 | 19 | 41345604 | intron variant | C/A | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.080 | 14 | 68536271 | intron variant | A/G | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.695 | 0.520 | 7 | 45921476 | intron variant | G/T | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 |
|
0.020 | 1.000 | 2 | 2012 | 2018 | |||||||
|
0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 3 | 75329934 | non coding transcript exon variant | G/A | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.200 | 20 | 54170358 | intron variant | C/T | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.020 | 1.000 | 2 | 2011 | 2013 | |||||||
|
0.925 | 0.080 | 3 | 122258079 | intron variant | G/A | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.716 | 0.400 | 4 | 153685974 | intron variant | T/A | snv | 0.45 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.716 | 0.360 | 8 | 127343372 | intron variant | A/G | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.701 | 0.240 | 14 | 53944201 | downstream gene variant | T/C | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 15 | 51247171 | intron variant | G/A | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 1 | 228347383 | intron variant | C/T | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.160 | 19 | 49665763 | 5 prime UTR variant | T/C | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.653 | 0.480 | 11 | 69648142 | splice region variant | G/A | snv | 0.45 | 0.39 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.080 | 4 | 174540379 | non coding transcript exon variant | T/C | snv | 0.38 |
|
0.020 | 1.000 | 2 | 2013 | 2020 | ||||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.695 | 0.320 | 11 | 35154612 | intron variant | T/C | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.724 | 0.280 | 7 | 128241296 | 5 prime UTR variant | G/A | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 |
|
0.070 | 1.000 | 7 | 2008 | 2013 |