Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | 15 | 48448812 | missense variant | C/T | snv | 0.800 | 1.000 | 18 | 1973 | 2017 | |||||
|
2 | 0.925 | 0.160 | 15 | 48421652 | stop gained | G/A;C;T | snv | 1.2E-05 | 0.800 | 1.000 | 17 | 1996 | 2017 | ||||
|
1 | 1.000 | 0.160 | 15 | 48452603 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 12 | 1996 | 2017 | |||||
|
1 | 1.000 | 0.160 | 15 | 48428391 | missense variant | A/G | snv | 0.800 | 1.000 | 10 | 1996 | 2017 | |||||
|
2 | 0.925 | 0.160 | 15 | 48472594 | stop gained | G/A;C;T | snv | 3.6E-05 | 1.4E-05 | 0.800 | 1.000 | 10 | 1996 | 2017 | |||
|
2 | 0.925 | 0.160 | 15 | 48610808 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 10 | 1996 | 2017 | |||||
|
1 | 1.000 | 0.160 | 15 | 48415735 | stop gained | C/A;T | snv | 2.1E-04 | 0.800 | 1.000 | 10 | 1996 | 2017 | ||||
|
9 | 0.763 | 0.200 | 15 | 48415759 | missense variant | C/T | snv | 0.800 | 1.000 | 7 | 1999 | 2014 | |||||
|
3 | 0.882 | 0.200 | 15 | 48613073 | missense variant | G/A | snv | 0.800 | 1.000 | 7 | 2002 | 2016 | |||||
|
2 | 0.925 | 0.160 | 15 | 48430791 | missense variant | A/G;T | snv | 0.800 | 1.000 | 5 | 2002 | 2009 | |||||
|
10 | 0.752 | 0.200 | 15 | 48505037 | missense variant | G/A | snv | 0.710 | 1.000 | 8 | 1973 | 2017 | |||||
|
2 | 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 | ||||
|
9 | 0.763 | 0.200 | 15 | 48437069 | stop gained | C/A;T | snv | 0.710 | 1.000 | 2 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.160 | 15 | 48481660 | missense variant | C/A;G | snv | 0.710 | 1.000 | 1 | 2000 | 2000 | |||||
|
14 | 0.763 | 0.240 | 15 | 48510065 | stop gained | G/A | snv | 7.0E-06 | 0.710 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 0.925 | 0.160 | 15 | 48437039 | missense variant | C/T | snv | 0.710 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.200 | 15 | 48487155 | missense variant | C/T | snv | 1.3E-03 | 1.6E-03 | 0.700 | 1.000 | 30 | 1993 | 2017 | |||
|
2 | 0.925 | 0.160 | 15 | 48487365 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-05 | 0.700 | 1.000 | 20 | 1993 | 2013 | ||||
|
2 | 0.925 | 0.160 | 15 | 48488230 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1993 | 2013 | |||||
|
2 | 0.925 | 0.160 | 15 | 48488448 | missense variant | T/C | snv | 8.0E-06 | 0.700 | 1.000 | 20 | 1993 | 2013 | ||||
|
2 | 0.925 | 0.160 | 15 | 48489979 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1993 | 2013 | |||||
|
16 | 0.708 | 0.280 | 15 | 48505106 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 16 | 1973 | 2015 | ||||
|
15 | 0.732 | 0.200 | 15 | 48420752 | missense variant | A/G;T | snv | 1.6E-05 | 0.700 | 1.000 | 14 | 1999 | 2016 | ||||
|
9 | 0.763 | 0.280 | 15 | 48446701 | splice region variant | C/A;T | snv | 0.700 | 1.000 | 13 | 1995 | 2014 | |||||
|
2 | 0.925 | 0.160 | 15 | 48444648 | missense variant | C/T | snv | 0.700 | 1.000 | 11 | 1973 | 2008 |