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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.070 | 1.000 | 7 | 2006 | 2018 | |||||||||
|
0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins |
|
0.020 | 1.000 | 2 | 2014 | 2019 | |||||||||
|
0.925 | 0.160 | 2 | 54972426 | 3 prime UTR variant | -/TTA | ins | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.200 | 3 | 33798239 | intron variant | -/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA | delins |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 4 | 40337027 | intron variant | A/-;AA;AAA | delins | 1.2E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 |
|
0.050 | 0.800 | 5 | 2010 | 2019 | |||||||
|
1.000 | 0.080 | 6 | 33172302 | missense variant | A/C | snv |
|
0.030 | 1.000 | 3 | 2011 | 2018 | |||||||||
|
0.827 | 0.080 | 15 | 66435113 | missense variant | A/C | snv |
|
0.720 | 1.000 | 2 | 1995 | 2016 | |||||||||
|
0.790 | 0.280 | 5 | 132656717 | intron variant | A/C | snv | 0.21 |
|
0.020 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 |
|
0.020 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
1.000 | 0.080 | 10 | 102401718 | intron variant | A/C | snv | 2.3E-02 | 2.3E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.732 | 0.160 | 17 | 7674089 | intron variant | A/C | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 3 | 185811292 | intron variant | A/C | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.160 | 6 | 1388953 | upstream gene variant | A/C | snv | 4.7E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.280 | 6 | 104960124 | intron variant | A/C | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 12 | 25244659 | intron variant | A/C | snv | 2.7E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 1 | 7801624 | intron variant | A/C | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 6 | 159682631 | missense variant | A/C | snv | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 2 | 29213993 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.742 | 0.240 | 6 | 33208047 | upstream gene variant | A/C;G | snv |
|
0.020 | 1.000 | 2 | 2012 | 2017 | |||||||||
|
0.851 | 0.240 | 9 | 36105267 | synonymous variant | A/C;G | snv | 4.0E-06; 0.34 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 5 | 181244029 | intron variant | A/C;G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 29 | 2002 | 2019 | ||||||||
|
0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv |
|
0.020 | 1.000 | 2 | 2008 | 2016 |