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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 11 | 103177652 | missense variant | A/T | snv | 0.800 | 1.000 | 4 | 2009 | 2013 | |||||
|
15 | 0.827 | 0.120 | 11 | 103220720 | missense variant | A/G | snv | 2.4E-04 | 2.6E-04 | 0.800 | 1.000 | 4 | 2009 | 2013 | |||
|
1 | 1.000 | 0.080 | 11 | 103155476 | missense variant | T/C | snv | 3.3E-05 | 2.1E-05 | 0.800 | 1.000 | 4 | 2009 | 2013 | |||
|
1 | 1.000 | 0.080 | 11 | 103125197 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 4 | 2009 | 2013 | |||
|
2 | 0.925 | 0.120 | 11 | 103185032 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 4 | 2009 | 2013 | ||||
|
1 | 1.000 | 0.080 | 11 | 103163146 | missense variant | A/G | snv | 0.800 | 1.000 | 4 | 2009 | 2013 | |||||
|
1 | 1.000 | 0.080 | 11 | 103189761 | missense variant | G/T | snv | 0.800 | 1.000 | 4 | 2009 | 2013 | |||||
|
1 | 1.000 | 0.080 | 11 | 103177640 | missense variant | A/G | snv | 0.800 | 1.000 | 4 | 2009 | 2013 | |||||
|
2 | 0.925 | 0.120 | 11 | 103253384 | missense variant | C/T | snv | 3.6E-05; 8.0E-06 | 2.8E-05 | 0.800 | 1.000 | 4 | 2009 | 2013 | |||
|
1 | 1.000 | 0.080 | 11 | 103199373 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.800 | 1.000 | 4 | 2009 | 2013 | |||
|
1 | 1.000 | 0.080 | 11 | 103191565 | missense variant | C/T | snv | 0.800 | 1.000 | 4 | 2009 | 2013 | |||||
|
2 | 0.925 | 0.120 | 11 | 103117852 | missense variant | C/T | snv | 3.2E-05 | 1.4E-05 | 0.800 | 1.000 | 4 | 2009 | 2013 | |||
|
2 | 0.925 | 0.120 | 11 | 103116573 | missense variant | T/A | snv | 1.3E-05 | 4.9E-05 | 0.800 | 1.000 | 4 | 2009 | 2013 | |||
|
1 | 1.000 | 0.080 | 11 | 103158916 | missense variant | C/T | snv | 2.9E-05 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 103187356 | missense variant | G/A;T | snv | 2.8E-05; 1.2E-05 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 103177653 | missense variant | T/A;C | snv | 0.700 | 1.000 | 4 | 2009 | 2013 | |||||
|
1 | 1.000 | 0.080 | 11 | 103199307 | missense variant | T/C | snv | 0.700 | 1.000 | 4 | 2009 | 2013 | |||||
|
1 | 1.000 | 0.080 | 11 | 103197942 | missense variant | A/G | snv | 5.4E-06 | 0.700 | 1.000 | 4 | 2009 | 2013 | ||||
|
2 | 0.925 | 0.120 | 11 | 103192150 | missense variant | C/A;T | snv | 5.1E-06; 5.1E-06 | 0.700 | 1.000 | 4 | 2009 | 2013 | ||||
|
1 | 1.000 | 0.080 | 11 | 103120964 | missense variant | C/T | snv | 2.2E-04 | 5.2E-04 | 0.700 | 1.000 | 4 | 2009 | 2013 | |||
|
1 | 1.000 | 0.080 | 11 | 103307754 | missense variant | C/A;T | snv | 4.2E-06; 1.7E-05 | 0.700 | 1.000 | 4 | 2009 | 2013 | ||||
|
1 | 1.000 | 0.080 | 11 | 103158974 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 4 | 2009 | 2013 | |||
|
1 | 1.000 | 0.080 | 11 | 103191521 | missense variant | G/A | snv | 3.0E-05 | 4.9E-05 | 0.700 | 1.000 | 4 | 2009 | 2013 | |||
|
1 | 1.000 | 0.080 | 11 | 103135727 | stop gained | C/G;T | snv | 4.1E-06; 4.1E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.925 | 0.080 | 11 | 103253342 | missense variant | G/A;T | snv | 6.0E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 |