| 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 | 0.280 | 2 | 230226508 | intron variant | T/C;G | snv |
|
0.830 | 1.000 | 4 | 2008 | 2014 | |||||||||
|
0.742 | 0.360 | 6 | 411064 | 3 prime UTR variant | A/G;T | snv |
|
0.840 | 1.000 | 4 | 2008 | 2014 | |||||||||
|
0.851 | 0.280 | 16 | 85942053 | intron variant | C/A;T | snv |
|
0.820 | 1.000 | 2 | 2010 | 2012 | |||||||||
|
0.851 | 0.200 | 2 | 241431686 | missense variant | C/A;T | snv | 4.1E-06; 9.3E-02 |
|
0.820 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.925 | 0.120 | 9 | 22336997 | intergenic variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2016 | |||||||||
|
0.925 | 0.120 | 7 | 124822607 | 3 prime UTR variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.120 | 4 | 108105258 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2016 | |||||||||
|
1.000 | 0.120 | 16 | 85911217 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.120 | 11 | 2299865 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2016 | |||||||||
|
0.776 | 0.280 | 5 | 1344343 | splice region variant | G/A;T | snv | 0.37; 8.0E-06 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 18 | 60370200 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.120 | 18 | 59955055 | TF binding site variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2016 | |||||||||
|
0.925 | 0.200 | 15 | 56048698 | intergenic variant | A/G;T | snv |
|
0.720 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.120 | 2 | 241253433 | missense variant | T/C;G | snv | 0.19; 8.4E-05 |
|
0.800 | 1.000 | 1 | 2013 | 2016 | ||||||||
|
0.925 | 0.120 | 4 | 108095668 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.827 | 0.280 | 6 | 32638979 | synonymous variant | G/A | snv | 3.0E-05 | 1.8E-03 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 18 | 63126688 | 3 prime UTR variant | T/C | snv | 5.1E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.200 | 19 | 46765116 | intron variant | G/T | snv | 5.1E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 18 | 63126316 | 3 prime UTR variant | C/T | snv | 5.9E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 18 | 63126261 | 3 prime UTR variant | C/T | snv | 6.0E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2016 | ||||||||
|
0.925 | 0.120 | 15 | 56483399 | intergenic variant | A/G | snv | 8.0E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 15 | 56090097 | 3 prime UTR variant | A/G | snv | 0.12 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.776 | 0.280 | 11 | 123490689 | intron variant | G/A | snv | 0.15 |
|
0.840 | 1.000 | 4 | 2008 | 2018 | ||||||||
|
0.827 | 0.280 | 2 | 111039881 | intron variant | A/G | snv | 0.15 |
|
0.830 | 1.000 | 3 | 2008 | 2013 | ||||||||
|
0.882 | 0.200 | 19 | 46704397 | splice region variant | G/A | snv | 0.17 | 0.16 |
|
0.830 | 1.000 | 1 | 2008 | 2010 |