| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.160 | 15 | 48463977 | missense variant | A/G | snv |
|
0.800 | 1.000 | 0 | 1993 | 2017 | |||||||||
|
1.000 | 0.160 | 15 | 48497391 | missense variant | T/G | snv |
|
0.800 | 1.000 | 0 | 1993 | 2017 | |||||||||
|
1.000 | 0.160 | 15 | 48485418 | missense variant | C/A;T | snv |
|
0.800 | 1.000 | 0 | 1993 | 2017 | |||||||||
|
1.000 | 0.160 | 15 | 48487425 | missense variant | C/T | snv |
|
0.800 | 1.000 | 0 | 1993 | 2017 | |||||||||
|
1.000 | 0.160 | 15 | 48483863 | missense variant | A/G | snv |
|
0.800 | 1.000 | 0 | 1993 | 2017 | |||||||||
|
1.000 | 0.160 | 15 | 48487389 | missense variant | C/T | snv |
|
0.800 | 1.000 | 0 | 1993 | 2017 | |||||||||
|
0.925 | 0.160 | 15 | 48487317 | missense variant | C/T | snv |
|
0.800 | 1.000 | 0 | 1993 | 2017 | |||||||||
|
1.000 | 0.160 | 15 | 48415735 | stop gained | C/A;T | snv | 2.1E-04 |
|
0.800 | 1.000 | 0 | 1996 | 2017 | ||||||||
|
1.000 | 0.160 | 15 | 48441771 | missense variant | C/T | snv | 7.0E-06 |
|
0.800 | 1.000 | 0 | 1993 | 2017 | ||||||||
|
1.000 | 0.160 | 15 | 48437370 | missense variant | A/G | snv |
|
0.800 | 1.000 | 0 | 1993 | 2017 | |||||||||
|
0.752 | 0.200 | 15 | 48505037 | missense variant | G/A | snv |
|
0.710 | 1.000 | 7 | 1973 | 2017 | |||||||||
|
0.925 | 0.160 | 15 | 48468427 | stop gained | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
0.710 | 1.000 | 5 | 2000 | 2015 | ||||||||
|
0.763 | 0.200 | 15 | 48437069 | stop gained | C/A;T | snv |
|
0.710 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.160 | 15 | 48481660 | missense variant | C/A;G | snv |
|
0.710 | 1.000 | 0 | 2000 | 2000 | |||||||||
|
0.763 | 0.240 | 15 | 48510065 | stop gained | G/A | snv | 7.0E-06 |
|
0.710 | 1.000 | 0 | 2000 | 2000 | ||||||||
|
0.882 | 0.200 | 14 | 74551108 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.710 | 1.000 | 0 | 2012 | 2012 | ||||||||
|
0.925 | 0.160 | 15 | 48437039 | missense variant | C/T | snv |
|
0.710 | 1.000 | 0 | 2010 | 2010 | |||||||||
|
0.708 | 0.280 | 15 | 48505106 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 16 | 1973 | 2015 | ||||||||
|
0.732 | 0.200 | 15 | 48420752 | missense variant | A/G;T | snv | 1.6E-05 |
|
0.700 | 1.000 | 14 | 1999 | 2016 | ||||||||
|
0.763 | 0.280 | 15 | 48446701 | splice region variant | C/A;T | snv |
|
0.700 | 1.000 | 13 | 1995 | 2014 | |||||||||
|
0.925 | 0.160 | 15 | 48444648 | missense variant | C/T | snv |
|
0.700 | 1.000 | 11 | 1973 | 2008 | |||||||||
|
0.925 | 0.160 | 15 | 48508660 | missense variant | A/C | snv |
|
0.700 | 1.000 | 10 | 1973 | 2015 | |||||||||
|
0.925 | 0.160 | 15 | 48600195 | missense variant | C/T | snv |
|
0.700 | 1.000 | 10 | 1973 | 2012 | |||||||||
|
0.763 | 0.200 | 15 | 48430736 | missense variant | A/G | snv | 7.0E-06 |
|
0.700 | 1.000 | 10 | 1999 | 2016 | ||||||||
|
0.925 | 0.160 | 15 | 48488412 | missense variant | C/T | snv |
|
0.700 | 1.000 | 10 | 1973 | 2007 |