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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.776 | 0.160 | 19 | 11113365 | missense variant | A/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.790 | 0.120 | 19 | 11113680 | missense variant | G/T | snv | 0.020 | 1.000 | 2 | 2009 | 2013 | |||||
|
8 | 0.807 | 0.200 | 19 | 11113743 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 | 0.810 | 1.000 | 32 | 1989 | 2017 | ||||
|
7 | 0.807 | 0.120 | 19 | 11113451 | splice donor variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.200 | 19 | 11113337 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 0.800 | 1.000 | 38 | 1989 | 2017 | |||
|
7 | 0.827 | 0.080 | 19 | 11113376 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.840 | 1.000 | 35 | 1989 | 2017 | ||||
|
6 | 0.827 | 0.120 | 19 | 11113585 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.827 | 0.120 | 19 | 11113590 | missense variant | G/A;T | snv | 5.6E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
5 | 0.827 | 0.160 | 19 | 11113348 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.120 | 19 | 11113314 | missense variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.120 | 19 | 11113322 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 19 | 11113277 | splice acceptor variant | G/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 19 | 11113313 | missense variant | G/A;C | snv | 8.0E-06 | 0.800 | 0 | |||||||
|
6 | 0.851 | 0.080 | 19 | 11113534 | splice acceptor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 19 | 11111514 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.120 | 19 | 11113570 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 19 | 11113307 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 0.800 | 1.000 | 31 | 1989 | 2017 | ||||
|
5 | 0.882 | 0.080 | 19 | 11113612 | missense variant | T/C | snv | 0.800 | 1.000 | 31 | 1989 | 2017 | |||||
|
3 | 0.882 | 0.080 | 19 | 11113292 | missense variant | C/G;T | snv | 8.0E-06; 4.0E-06 | 0.800 | 1.000 | 20 | 1989 | 2012 | ||||
|
5 | 0.882 | 0.160 | 19 | 11113650 | missense variant | G/A;C | snv | 2.4E-05; 4.0E-06 | 0.800 | 1.000 | 20 | 1989 | 2012 | ||||
|
4 | 0.882 | 0.160 | 19 | 11113338 | missense variant | G/A;C;T | snv | 1.6E-05 | 0.810 | 1.000 | 12 | 2004 | 2018 | ||||
|
5 | 0.882 | 0.080 | 19 | 11113752 | missense variant | C/A;T | snv | 8.0E-06 | 0.800 | 1.000 | 11 | 2004 | 2017 | ||||
|
4 | 0.882 | 0.160 | 19 | 11111519 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.800 | 1.000 | 11 | 2004 | 2017 | ||||
|
3 | 0.882 | 0.080 | 19 | 11111526 | missense variant | G/A | snv | 0.800 | 1.000 | 11 | 2004 | 2017 | |||||
|
3 | 0.882 | 0.080 | 19 | 11113326 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2006 | 2010 |