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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 |
|
0.900 | 1.000 | 3 | 2007 | 2019 | ||||||||
|
0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 |
|
0.730 | 1.000 | 1 | 2009 | 2020 | |||||||
|
0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.683 | 0.560 | 5 | 35874473 | missense variant | C/T | snv | 0.23 | 0.21 |
|
0.900 | 0.909 | 2 | 2007 | 2018 | |||||||
|
0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 |
|
0.710 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 |
|
0.710 | 1.000 | 1 | 2009 | 2011 | ||||||||
|
0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 |
|
0.820 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 |
|
0.770 | 1.000 | 1 | 2009 | 2018 | ||||||||
|
0.695 | 0.320 | 10 | 6056986 | intron variant | C/T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv |
|
0.810 | 1.000 | 1 | 2011 | 2018 | |||||||||
|
0.732 | 0.440 | 5 | 159395637 | intron variant | G/C | snv | 0.35 |
|
0.720 | 0.667 | 1 | 2011 | 2017 | ||||||||
|
0.732 | 0.400 | 5 | 151077924 | intron variant | G/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |