| 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 | 0.320 | 5 | 1315545 | downstream gene variant | G/A | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 5 | 56756868 | regulatory region variant | T/C | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
3 | 186622052 | intron variant | G/C | snv | 0.19 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||||
|
0.925 | 0.080 | 8 | 2741967 | intron variant | C/A;G;T | snv | 0.42 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
8 | 119532708 | intergenic variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1.000 | 0.040 | 10 | 119192212 | regulatory region variant | C/T | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
5 | 56757652 | intergenic variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
0.882 | 0.120 | 9 | 79507370 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.160 | 10 | 92722160 | intergenic variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
11 | 132360808 | regulatory region variant | T/C | snv | 0.38 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||||
|
6 | 28981429 | upstream gene variant | G/C | snv | 0.34 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||||
|
0.851 | 0.120 | 8 | 16232964 | intron variant | C/T | snv | 0.87 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.080 | 13 | 73154002 | intergenic variant | G/T | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.100 | 0.909 | 11 | 2005 | 2013 | ||||||||
|
0.776 | 0.120 | 7 | 87591570 | intron variant | A/G | snv | 0.50 |
|
0.020 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||||
|
0.807 | 0.240 | 7 | 87550493 | missense variant | C/A;T | snv | 2.7E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.080 | 7 | 87504050 | 3 prime UTR variant | T/C | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 16 | 16142147 | 3 prime UTR variant | T/A | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.724 | 0.440 | 10 | 99844450 | missense variant | C/G;T | snv | 2.4E-05; 0.34 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 |
|
0.040 | 1.000 | 4 | 2005 | 2019 | ||||||||
|
0.925 | 0.080 | 4 | 88131886 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||||
|
0.882 | 0.200 | 9 | 133263862 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 |