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 |
|
1.000 | 0.950 | 4 | 2004 | 2020 | |||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.820 | 1.000 | 2 | 2009 | 2018 | ||||||||
|
0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 |
|
0.860 | 0.800 | 2 | 2007 | 2019 | ||||||||
|
0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 |
|
0.810 | 1.000 | 3 | 2007 | 2015 | ||||||||
|
0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 |
|
0.900 | 0.955 | 3 | 2007 | 2018 | |||||||
|
0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 |
|
0.900 | 0.917 | 1 | 2007 | 2015 | ||||||||
|
0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.716 | 0.440 | 6 | 31652743 | intron variant | T/G | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 |
|
0.710 | 1.000 | 1 | 2005 | 2007 | |||||||
|
0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 |
|
0.710 | 1.000 | 1 | 2007 | 2010 | ||||||||
|
0.732 | 0.360 | 19 | 10364976 | missense variant | C/A | snv | 0.27 | 0.23 |
|
0.800 | 1.000 | 1 | 2010 | 2011 | |||||||
|
0.732 | 0.400 | 6 | 31481199 | non coding transcript exon variant | C/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.742 | 0.480 | 12 | 56088396 | intron variant | T/G | snv | 0.65 |
|
0.830 | 1.000 | 3 | 2007 | 2019 | ||||||||
|
0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 |
|
0.830 | 0.667 | 2 | 2009 | 2019 | ||||||||
|
0.742 | 0.440 | 6 | 31951083 | non coding transcript exon variant | A/G | snv | 7.5E-02 |
|
0.800 | 1.000 | 1 | 2007 | 2015 | ||||||||
|
0.742 | 0.400 | 6 | 32602623 | intergenic variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.742 | 0.400 | 6 | 32460508 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.752 | 0.440 | 6 | 31753256 | intron variant | G/A | snv | 6.4E-02 | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.752 | 0.280 | 6 | 32223562 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.752 | 0.360 | 6 | 32609603 | intergenic variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.752 | 0.440 | 6 | 32762235 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 |
|
0.830 | 1.000 | 2 | 2007 | 2015 |