| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.200 | 8 | 128554935 | intron variant | T/C | snv | 0.19 |
|
0.810 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
1.000 | 0.040 | 10 | 131373856 | intergenic variant | G/A;C;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 5 | 132033475 | intergenic variant | G/A | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 5 | 132036306 | intergenic variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 5 | 132043963 | intergenic variant | C/T | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 5 | 132067045 | downstream gene variant | C/T | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 5 | 132239645 | intron variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 5 | 132246663 | intron variant | C/T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 5 | 132329730 | intron variant | T/C | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.776 | 0.480 | 5 | 132340627 | missense variant | C/T | snv | 0.29 | 0.28 |
|
0.800 | 0.917 | 1 | 2006 | 2017 | |||||||
|
0.882 | 0.160 | 5 | 132435113 | intron variant | C/T | snv | 0.29 |
|
0.810 | 1.000 | 2 | 2008 | 2017 | ||||||||
|
1.000 | 0.040 | 5 | 132448701 | intron variant | G/T | snv | 0.28 |
|
0.810 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
1.000 | 0.040 | 5 | 132466255 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 5 | 132468655 | intron variant | C/A | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.763 | 0.360 | 9 | 136372044 | missense variant | C/A;T | snv | 4.0E-06; 0.41 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 5 | 142099500 | regulatory region variant | A/C | snv | 0.80 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 |
|
0.850 | 1.000 | 2 | 2007 | 2015 | ||||||||
|
0.925 | 0.040 | 5 | 150860514 | intron variant | C/T | snv | 0.13 |
|
0.840 | 1.000 | 1 | 2007 | 2015 | ||||||||
|
0.790 | 0.240 | 5 | 150879305 | intron variant | A/G | snv | 0.21 |
|
0.820 | 0.667 | 1 | 2008 | 2020 | ||||||||
|
1.000 | 0.040 | 5 | 150890858 | intron variant | A/G | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.160 | 21 | 15432901 | intron variant | T/C | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 21 | 15440233 | intron variant | C/A | snv | 0.33 |
|
0.800 | 1.000 | 2 | 2008 | 2010 | ||||||||
|
1.000 | 0.040 | 1 | 155260340 | synonymous variant | C/T | snv | 0.34 | 0.36 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.827 | 0.240 | 6 | 159069404 | intron variant | C/G;T | snv |
|
0.810 | 1.000 | 3 | 2010 | 2017 | |||||||||
|
0.925 | 0.080 | 5 | 159360377 | intron variant | G/A | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2010 | 2010 |