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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.851 | 0.240 | 16 | 23406263 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
10 | 0.851 | 0.240 | 16 | 23452993 | start lost | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 17 | 8075607 | missense variant | G/A | snv | 2.0E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 14 | 24255388 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 14 | 24259778 | missense variant | T/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 14 | 24255378 | missense variant | T/C | snv | 2.8E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 18 | 63318110 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 14 | 24261772 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
3 | 0.882 | 0.080 | 14 | 24260459 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 14 | 24255457 | missense variant | C/A;T | snv | 4.0E-06; 1.1E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
4 | 0.851 | 0.080 | 14 | 24261776 | missense variant | G/A;C | snv | 5.6E-05 | 9.1E-05 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.080 | 14 | 24249451 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 14 | 24261773 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 0.925 | 0.080 | 14 | 24261824 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | |||
|
2 | 0.925 | 0.080 | 14 | 24261778 | missense variant | C/T | snv | 3.2E-05 | 4.2E-05 | 0.020 | 1.000 | 2 | 2004 | 2009 | |||
|
2 | 0.925 | 0.080 | 14 | 24259769 | missense variant | G/A;C;T | snv | 2.0E-05; 1.5E-04; 4.0E-06 | 0.700 | 1.000 | 5 | 2006 | 2016 |