Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.925 | 0.080 | 15 | 78691217 | intron variant | C/A;G;T | snv | 0.28 | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||
|
4 | 0.925 | 0.080 | 15 | 78432127 | intergenic variant | C/T | snv | 0.22 | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||
|
4 | 1.000 | 0.080 | 15 | 78664464 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||
|
4 | 1.000 | 0.080 | 15 | 78686022 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||
|
4 | 0.925 | 0.080 | 15 | 78668187 | intron variant | A/C | snv | 0.35 | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||
|
5 | 0.827 | 0.080 | 15 | 78534606 | 3 prime UTR variant | T/C | snv | 0.26 | 0.710 | 1.000 | 3 | 2008 | 2012 | ||||
|
4 | 0.925 | 0.080 | 15 | 78420357 | regulatory region variant | A/C;T | snv | 0.700 | 1.000 | 3 | 2008 | 2012 | |||||
|
5 | 0.807 | 0.080 | 15 | 78622903 | upstream gene variant | C/A;T | snv | 0.740 | 1.000 | 3 | 2008 | 2014 | |||||
|
3 | 0.925 | 0.080 | 15 | 78637030 | intron variant | G/A | snv | 0.63 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
3 | 0.925 | 0.080 | 15 | 78654291 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 2 | 2008 | 2012 | ||||
|
4 | 0.827 | 0.080 | 15 | 78599285 | intron variant | G/A;C;T | snv | 0.710 | 1.000 | 2 | 2009 | 2012 | |||||
|
3 | 0.925 | 0.080 | 15 | 78638168 | intron variant | A/G;T | snv | 0.62 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
6 | 0.851 | 0.080 | 15 | 78727268 | splice region variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2009 | 2012 | |||||
|
2 | 0.827 | 0.080 | 3 | 189638472 | intron variant | T/C | snv | 0.45 | 0.750 | 1.000 | 2 | 2011 | 2015 | ||||
|
5 | 0.851 | 0.080 | 15 | 78604205 | intron variant | G/A | snv | 0.72 | 0.710 | 1.000 | 2 | 2009 | 2016 | ||||
|
2 | 0.925 | 0.080 | 15 | 78450412 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.827 | 0.080 | 15 | 78500185 | 3 prime UTR variant | T/C | snv | 0.39 | 0.710 | 1.000 | 1 | 2009 | 2017 | ||||
|
2 | 0.882 | 0.080 | 12 | 955272 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 15 | 78714100 | intron variant | G/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 22 | 30125781 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 30179823 | downstream gene variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 16 | 6367932 | intron variant | A/G | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 6 | 30070575 | 3 prime UTR variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 3 | 189639813 | intron variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 6 | 29949078 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 |