| 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 | 0.040 | 15 | 66436816 | missense variant | G/C | snv |
|
0.720 | 1.000 | 2 | 2011 | 2014 | |||||||||
|
0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv |
|
0.720 | 1.000 | 2 | 2016 | 2018 | |||||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
0.720 | 1.000 | 2 | 1989 | 2016 | |||||||||
|
0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv |
|
0.720 | 1.000 | 2 | 1986 | 2019 | |||||||||
|
0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.720 | 1.000 | 2 | 2002 | 2016 | ||||||||
|
0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv |
|
0.720 | 1.000 | 2 | 1989 | 2017 | |||||||||
|
0.827 | 0.280 | 15 | 66436825 | missense variant | C/A;G;T | snv |
|
0.720 | 1.000 | 2 | 2009 | 2015 | |||||||||
|
1.000 | 0.040 | 20 | 34767243 | intron variant | G/A | snv | 0.93 |
|
0.720 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2016 | |||||||||
|
0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv |
|
0.710 | 1.000 | 1 | 1995 | 2013 | |||||||||
|
1.000 | 0.040 | 19 | 4110586 | missense variant | A/T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 19 | 4117543 | missense variant | T/G | snv |
|
0.710 | 1.000 | 1 | 2013 | 2014 | |||||||||
|
0.882 | 0.200 | 9 | 21974760 | missense variant | C/T | snv |
|
0.710 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.882 | 0.080 | 9 | 21806565 | intron variant | G/A | snv | 0.34 |
|
0.710 | 1.000 | 1 | 2009 | 2012 | ||||||||
|
1.000 | 0.040 | 1 | 114716109 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2001 | 2014 | ||||||||
|
0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2009 | 2014 | ||||||||
|
0.925 | 0.040 | 7 | 140753345 | missense variant | AG/GA | mnv |
|
0.710 | 1.000 | 1 | 2002 | 2018 | |||||||||
|
0.851 | 0.240 | 7 | 140753339 | missense variant | G/A;C | snv |
|
0.710 | 1.000 | 1 | 2014 | 2018 | |||||||||
|
0.776 | 0.280 | 7 | 140753337 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 1 | 2002 | 2014 | |||||||||
|
0.827 | 0.120 | 22 | 38167464 | intron variant | C/T | snv | 0.51 |
|
0.710 | 1.000 | 1 | 2009 | 2012 | ||||||||
|
1.000 | 0.040 | 9 | 21757804 | intergenic variant | T/G | snv | 0.32 |
|
0.710 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
1.000 | 0.040 | 5 | 17453974 | intron variant | C/T | snv | 3.9E-03 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.763 | 0.320 | 1 | 243695714 | missense variant | C/T | snv |
|
0.710 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.120 | 20 | 34141638 | regulatory region variant | T/G | snv | 0.73 |
|
0.710 | 1.000 | 1 | 2011 | 2013 | ||||||||
|
0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv |
|
0.100 | 0.941 | 17 | 2011 | 2019 |