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 | 0.120 | 1 | 97082391 | missense variant | T/A | snv | 2.8E-03 | 3.3E-03 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 11790755 | synonymous variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 0.040 | 1 | 97450068 | synonymous variant | A/G | snv | 5.1E-02 | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1 | 206480926 | intron variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||||
|
1 | 97573863 | synonymous variant | C/T | snv | 1.4E-02 | 1.3E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.160 | 1 | 97402157 | intron variant | C/A | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
2 | 233618225 | missense variant | C/G;T | snv | 0.27; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 219218640 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 233669782 | intron variant | C/T | snv | 4.0E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.851 | 0.120 | 2 | 233757013 | intron variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.080 | 3 | 124737895 | missense variant | G/A;C | snv | 4.0E-06; 0.19 |
|
0.020 | 1.000 | 2 | 2006 | 2011 | ||||||||
|
0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 |
|
0.030 | 1.000 | 3 | 2006 | 2019 | ||||||||
|
0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.752 | 0.400 | 4 | 88139962 | missense variant | C/T | snv | 0.11 | 7.4E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 69108277 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
1.000 | 0.040 | 5 | 76975028 | intron variant | C/A | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
5 | 80781309 | intron variant | G/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 5 | 148483142 | 3 prime UTR variant | A/G | snv | 2.1E-03 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
5 | 80764197 | intron variant | G/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 80669717 | intron variant | A/G | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.040 | 6 | 160139849 | inframe deletion | GAT/- | delins | 0.15 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
6 | 73040138 | intron variant | A/C | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |