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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 20 | 34150806 | regulatory region variant | C/T | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 20 | 34150529 | intergenic variant | G/A | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 7 | 20742471 | intron variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 9 | 21971123 | missense variant | G/A;T | snv | 4.4E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.160 | 9 | 21971019 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 13 | 32384750 | non coding transcript exon variant | G/A | snv | 4.8E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 5 | 159079407 | intron variant | T/G | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 17 | 37513222 | 3 prime UTR variant | T/C | snv | 9.9E-02 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.776 | 0.120 | 11 | 533873 | missense variant | CT/AC;TC | mnv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.080 | 7 | 55160316 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 4 | 54727440 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 4 | 54727488 | missense variant | A/G | snv |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 8 | 89982791 | synonymous variant | C/T | snv | 0.35 | 0.33 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.851 | 0.040 | 1 | 236021631 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.080 | 9 | 107947454 | regulatory region variant | A/G | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 11 | 89294875 | intron variant | T/G | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.160 | 7 | 6382925 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 16 | 89919722 | missense variant | T/C | snv | 5.6E-03 | 6.6E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.776 | 0.360 | 11 | 102725749 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 9 | 21974761 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 |