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 | 0.120 | 2 | 218889990 | missense variant | G/A | snv | 7.6E-05 | 9.1E-05 | 0.800 | 1.000 | 9 | 2009 | 2017 | |||
|
19 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.800 | 1.000 | 8 | 2011 | 2017 | |||
|
1 | 1.000 | 0.080 | 2 | 218882384 | missense variant | C/A;T | snv | 4.0E-06; 8.6E-04 | 0.800 | 0 | |||||||
|
11 | 0.742 | 0.160 | 2 | 218890244 | missense variant | G/A | snv | 2.1E-03 | 6.9E-04 | 0.800 | 0 | ||||||
|
1 | 1.000 | 0.080 | 2 | 218882255 | missense variant | C/T | snv | 1.8E-03 | 9.9E-04 | 0.700 | 1.000 | 8 | 2011 | 2017 | |||
|
1 | 1.000 | 0.080 | 2 | 218890256 | missense variant | G/A | snv | 3.9E-04 | 2.9E-04 | 0.700 | 1.000 | 8 | 2011 | 2017 | |||
|
1 | 1.000 | 0.080 | 2 | 218890034 | missense variant | C/A;T | snv | 2.5E-04 | 1.0E-04 | 0.700 | 1.000 | 8 | 2011 | 2017 | |||
|
1 | 1.000 | 0.080 | 2 | 218882330 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 8 | 2011 | 2017 | |||
|
1 | 1.000 | 0.080 | 2 | 218890094 | missense variant | C/G;T | snv | 4.0E-06; 1.1E-04 | 0.700 | 1.000 | 8 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 218890040 | missense variant | G/A;C;T | snv | 5.6E-05; 2.8E-05 | 0.700 | 1.000 | 8 | 2011 | 2017 | ||||
|
3 | 0.882 | 0.080 | 2 | 218893087 | missense variant | C/T | snv | 4.1E-05 | 7.0E-06 | 0.700 | 1.000 | 8 | 2011 | 2017 | |||
|
1 | 1.000 | 0.080 | 2 | 218892813 | missense variant | G/A | snv | 4.8E-06 | 0.700 | 1.000 | 8 | 2011 | 2017 | ||||
|
10 | 0.763 | 0.200 | 2 | 218882368 | stop gained | C/A | snv | 6.2E-04 | 8.5E-04 | 0.700 | 1.000 | 7 | 2009 | 2015 | |||
|
3 | 0.882 | 0.200 | 2 | 218889998 | missense variant | G/A;T | snv | 3.6E-05; 4.0E-06 | 0.700 | 1.000 | 4 | 2009 | 2014 | ||||
|
3 | 0.882 | 0.200 | 2 | 218889989 | stop gained | C/T | snv | 1.6E-05 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
2 | 0.925 | 0.120 | 2 | 218890349 | stop gained | C/T | snv | 8.4E-06 | 2.1E-05 | 0.700 | 1.000 | 2 | 2011 | 2017 | |||
|
3 | 0.882 | 0.200 | 2 | 218890223 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 2 | 218890118 | missense variant | C/A;T | snv | 4.0E-06; 1.9E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 218892848 | missense variant | G/T | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 218882423 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 218893152 | missense variant | C/T | snv | 4.7E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 2 | 218890274 | missense variant | C/A;T | snv | 2.0E-05; 4.1E-06; 6.1E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 2 | 218882358 | missense variant | G/A | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 218892935 | missense variant | C/G;T | snv | 5.2E-04 | 0.700 | 0 |