| 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 | 0.040 | 19 | 7909761 | missense variant | A/G | snv |
|
0.020 | 1.000 | 2 | 2005 | 2015 | |||||||||
|
0.925 | 0.120 | 9 | 21971123 | missense variant | G/A;T | snv | 4.4E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.100 | 0.833 | 12 | 2006 | 2019 | ||||||||
|
0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 |
|
0.800 | 1.000 | 10 | 1999 | 2016 | ||||||||
|
0.827 | 0.120 | 9 | 21971200 | missense variant | C/G;T | snv | 9.0E-06 |
|
0.060 | 1.000 | 6 | 1997 | 2007 | ||||||||
|
0.807 | 0.240 | 9 | 21974757 | missense variant | C/A;G;T | snv | 1.7E-05; 1.3E-05 |
|
0.750 | 1.000 | 5 | 1995 | 2015 | ||||||||
|
0.851 | 0.200 | 9 | 21970982 | missense variant | A/T | snv |
|
0.050 | 1.000 | 5 | 1999 | 2015 | |||||||||
|
0.851 | 0.200 | 9 | 21971183 | missense variant | A/C;T | snv | 4.6E-06 |
|
0.020 | 1.000 | 2 | 2003 | 2010 | ||||||||
|
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 | |||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2016 | |||||||||
|
0.827 | 0.200 | 12 | 57751647 | missense variant | C/A;T | snv |
|
0.740 | 0.600 | 4 | 2003 | 2014 | |||||||||
|
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 | |||||||
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
0.800 | 1.000 | 16 | 1989 | 2019 | |||||||||
|
0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv |
|
0.710 | 1.000 | 1 | 1995 | 2013 | |||||||||
|
0.925 | 0.040 | 15 | 66436816 | missense variant | G/C | snv |
|
0.720 | 1.000 | 2 | 2011 | 2014 | |||||||||
|
0.827 | 0.160 | 19 | 3118944 | missense variant | A/C;T | snv |
|
0.750 | 1.000 | 5 | 1989 | 2018 | |||||||||
|
1.000 | 0.040 | 19 | 4110586 | missense variant | A/T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2014 |