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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 |
|
0.100 | 0.857 | 14 | 2012 | 2018 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.833 | 12 | 2005 | 2014 | |||||||||
|
0.724 | 0.360 | 13 | 102845848 | 5 prime UTR variant | A/G | snv | 0.76 |
|
0.100 | 0.833 | 12 | 2012 | 2019 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.080 | 0.875 | 8 | 2009 | 2015 | |||||||||
|
0.882 | 0.120 | 5 | 40791782 | intron variant | C/T | snv | 0.31 |
|
0.780 | 1.000 | 8 | 2011 | 2018 | ||||||||
|
0.672 | 0.320 | 6 | 52190541 | 3 prime UTR variant | C/T | snv | 6.2E-02 |
|
0.080 | 0.750 | 8 | 2012 | 2018 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.080 | 0.875 | 8 | 2009 | 2015 | |||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.070 | 1.000 | 7 | 2008 | 2015 | |||||||||
|
0.701 | 0.280 | 13 | 102844409 | intron variant | C/T | snv | 0.18 |
|
0.060 | 0.833 | 6 | 2016 | 2019 | ||||||||
|
0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 |
|
0.040 | 1.000 | 4 | 2014 | 2016 | ||||||||
|
0.752 | 0.160 | 20 | 773867 | intron variant | C/T | snv | 5.9E-02 |
|
0.040 | 0.750 | 4 | 2011 | 2017 | ||||||||
|
0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 |
|
0.040 | 1.000 | 4 | 2012 | 2019 | ||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.040 | 1.000 | 4 | 2011 | 2019 | ||||||||
|
0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 |
|
0.040 | 1.000 | 4 | 2012 | 2018 | ||||||||
|
0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 |
|
0.040 | 0.750 | 4 | 2014 | 2019 | ||||||||
|
0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 |
|
0.040 | 1.000 | 4 | 2015 | 2020 | ||||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 |
|
0.030 | 1.000 | 3 | 2011 | 2014 | ||||||||
|
0.882 | 0.160 | 2 | 25231099 | 3 prime UTR variant | C/G;T | snv |
|
0.030 | 1.000 | 3 | 2012 | 2018 | |||||||||
|
0.851 | 0.120 | 5 | 60943616 | intron variant | G/A | snv | 0.63 |
|
0.030 | 1.000 | 3 | 2015 | 2018 | ||||||||
|
0.882 | 0.080 | 5 | 60949318 | intron variant | A/G | snv | 0.15 |
|
0.030 | 1.000 | 3 | 2015 | 2018 | ||||||||
|
0.851 | 0.120 | 10 | 49542929 | upstream gene variant | A/C | snv | 0.25 |
|
0.030 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
0.925 | 0.080 | 1 | 155185239 | intron variant | G/A | snv | 0.55 |
|
0.030 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 |
|
0.030 | 1.000 | 3 | 2013 | 2015 | ||||||||
|
0.695 | 0.280 | 13 | 102846025 | 5 prime UTR variant | T/C | snv | 0.38 |
|
0.030 | 1.000 | 3 | 2012 | 2019 |