| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.320 | 10 | 8062245 | intron variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2017 | |||||||||
|
0.851 | 0.120 | 10 | 22564019 | intron variant | C/A | snv | 0.55 |
|
0.020 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv |
|
0.020 | 1.000 | 2 | 1999 | 2018 | |||||||||
|
0.851 | 0.120 | 5 | 609978 | intron variant | C/T | snv | 0.32 |
|
0.020 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.851 | 0.200 | 9 | 127813796 | 3 prime UTR variant | T/C | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 7 | 50394939 | intron variant | T/C | snv | 0.82 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 2 | 176151875 | missense variant | A/C;T | snv | 5.2E-06; 7.9E-04 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.120 | 21 | 45514947 | 3 prime UTR variant | A/C | snv | 0.43 | 0.44 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.120 | 4 | 141732548 | intron variant | A/C | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | Y | 1196852 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.120 | 10 | 103093198 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.280 | 10 | 22550699 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.160 | 4 | 83309466 | missense variant | T/C | snv | 0.78 | 0.80 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.776 | 0.240 | 6 | 26092916 | missense variant | A/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.120 | 11 | 2751648 | intron variant | C/G;T | snv | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 11 | 108284370 | frameshift variant | -/T | delins | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 5 | 143400121 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.724 | 0.400 | 11 | 49185773 | missense variant | G/A | snv | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 1 | 66628488 | mature miRNA variant | G/A | snv | 0.17 | 0.24 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.120 | 14 | 23119433 | 5 prime UTR variant | G/A | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.672 | 0.360 | 6 | 29944350 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.120 | 11 | 65444508 | non coding transcript exon variant | G/A | snv | 0.16 | 0.17 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.120 | 22 | 28719401 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 |