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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.080 | 15 | 78500185 | 3 prime UTR variant | T/C | snv | 0.39 |
|
0.710 | 1.000 | 1 | 2009 | 2017 | ||||||||
|
0.827 | 0.080 | 15 | 78599285 | intron variant | G/A;C;T | snv |
|
0.710 | 1.000 | 1 | 2009 | 2012 | |||||||||
|
0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2011 | 2017 | |||||||||
|
0.827 | 0.080 | 15 | 78534606 | 3 prime UTR variant | T/C | snv | 0.26 |
|
0.710 | 1.000 | 1 | 2008 | 2012 | ||||||||
|
0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 |
|
0.710 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
0.827 | 0.080 | 22 | 29941597 | intron variant | T/C | snv | 0.78 |
|
0.710 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.677 | 0.320 | 11 | 61796827 | 3 prime UTR variant | G/C;T | snv |
|
0.710 | 0.500 | 1 | 2011 | 2018 | |||||||||
|
0.851 | 0.160 | 6 | 27523520 | non coding transcript exon variant | G/A | snv | 0.11 |
|
0.710 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
0.851 | 0.160 | 15 | 43267033 | upstream gene variant | T/C | snv | 0.17 |
|
0.710 | 1.000 | 1 | 2009 | 2011 | ||||||||
|
0.807 | 0.200 | 15 | 78615690 | intron variant | A/G | snv | 0.29 |
|
0.710 | 1.000 | 1 | 2008 | 2012 | ||||||||
|
0.851 | 0.080 | 15 | 78604205 | intron variant | G/A | snv | 0.72 |
|
0.710 | 1.000 | 1 | 2009 | 2016 | ||||||||
|
0.851 | 0.080 | 6 | 117465017 | intron variant | C/A;T | snv |
|
0.710 | 1.000 | 1 | 2012 | 2016 | |||||||||
|
0.882 | 0.080 | 6 | 111390819 | intron variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.160 | 5 | 81970563 | upstream gene variant | A/T | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 5 | 83177826 | intron variant | A/G | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.080 | 5 | 35878038 | 3 prime UTR variant | G/A | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 5 | 1279849 | intron variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 19 | 3577038 | missense variant | G/A;C | snv | 6.8E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.080 | 2 | 50420809 | intron variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.080 | 17 | 7674225 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 1993 | 1993 | |||||||||
|
0.827 | 0.120 | 5 | 35857748 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.080 | 7 | 124827416 | intron variant | T/C | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.080 | 7 | 6005996 | missense variant | C/A;G;T | snv | 7.2E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.080 | 8 | 127014165 | intron variant | G/A;C | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |