| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.695 | 0.280 | 17 | 78214286 | 5 prime UTR variant | G/A;C;T | snv | 0.38; 4.8E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
17 | 7676023 | splice donor variant | A/C | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.925 | 0.080 | 3 | 190312891 | synonymous variant | A/C;G;T | snv | 8.0E-06; 0.83; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 22 | 32857293 | missense variant | T/A;C | snv | 4.0E-06; 0.55 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | X | 123911791 | 3 prime UTR variant | C/T | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
3 | 89356604 | intron variant | A/G | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
0.851 | 0.080 | X | 67545492 | missense variant | C/A;T | snv | 6.6E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
3 | 189868592 | synonymous variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
3 | 52563348 | missense variant | A/G | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||||
|
11 | 2135469 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
12 | 106247384 | synonymous variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1.000 | 0.160 | 1 | 193212458 | missense variant | G/A;T | snv | 4.0E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
4 | 54277974 | missense variant | T/C | snv | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.776 | 0.200 | 2 | 217445617 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv |
|
0.040 | 1.000 | 4 | 2014 | 2019 | |||||||||
|
0.776 | 0.240 | 8 | 127705823 | intron variant | G/A;T | snv |
|
0.020 | 1.000 | 2 | 2009 | 2010 | |||||||||
|
0.925 | 0.080 | 13 | 73154002 | intergenic variant | G/T | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
17 | 39727763 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.925 | 0.080 | 13 | 91351335 | mature miRNA variant | G/A;C | snv | 5.4E-03; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 13 | 48397800 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.280 | 13 | 42573535 | intron variant | T/C | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
13 | 28053535 | intron variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
6 | 3273223 | synonymous variant | A/G | snv | 8.6E-02 | 9.0E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.742 | 0.200 | 14 | 36180040 | upstream gene variant | C/T | snv | 0.45 |
|
0.020 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
1.000 | 0.080 | 14 | 89956320 | intron variant | T/C | snv | 0.37 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 |