| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.240 | 17 | 39723966 | missense variant | TT/CC | mnv |
|
0.710 | 1.000 | 1 | 2004 | 2015 | |||||||||
|
0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 |
|
0.710 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.710 | 1.000 | 1 | 2015 | 2016 | ||||||||
|
0.827 | 0.080 | 22 | 29941597 | intron variant | T/C | snv | 0.78 |
|
0.710 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.200 | 5 | 1320132 | intron variant | G/A | snv | 0.47 |
|
0.710 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
0.807 | 0.080 | 19 | 40847202 | intron variant | T/C | snv | 0.52 |
|
0.710 | 1.000 | 1 | 2016 | 2017 | ||||||||
|
0.882 | 0.080 | 2 | 173118476 | intron variant | A/C;G;T | snv |
|
0.710 | 1.000 | 1 | 2017 | 2018 | |||||||||
|
0.851 | 0.160 | 15 | 43267033 | upstream gene variant | T/C | snv | 0.17 |
|
0.710 | 1.000 | 1 | 2009 | 2011 | ||||||||
|
0.742 | 0.240 | 15 | 78618839 | synonymous variant | T/C | snv | 0.35 | 0.37 |
|
0.710 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.807 | 0.200 | 15 | 78615690 | intron variant | A/G | snv | 0.29 |
|
0.710 | 1.000 | 1 | 2008 | 2011 | ||||||||
|
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 | ||||||||
|
0.776 | 0.120 | 19 | 47680514 | missense variant | C/G;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |