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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.360 | 8 | 93791282 | missense variant | A/G;T | snv | 8.0E-06; 4.0E-06 | 0.800 | 1.000 | 4 | 2009 | 2017 | ||||
|
2 | 0.925 | 0.280 | 8 | 93795503 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.800 | 1.000 | 4 | 2009 | 2017 | |||
|
5 | 0.827 | 0.360 | 8 | 93808898 | missense variant | T/C | snv | 4.0E-05 | 8.4E-05 | 0.800 | 1.000 | 4 | 2009 | 2017 | |||
|
28 | 0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 | 0.800 | 1.000 | 3 | 2009 | 2017 | ||||
|
8 | 0.776 | 0.360 | 8 | 93781725 | missense variant | T/C | snv | 2.0E-05 | 4.2E-05 | 0.800 | 1.000 | 3 | 2009 | 2017 | |||
|
2 | 0.925 | 0.360 | 16 | 53652712 | missense variant | A/G | snv | 0.800 | 1.000 | 2 | 2010 | 2011 | |||||
|
2 | 0.925 | 0.360 | 4 | 15567735 | missense variant | C/T | snv | 3.8E-05 | 5.6E-05 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
22 | 0.716 | 0.480 | 8 | 93786255 | missense variant | C/T | snv | 2.0E-05 | 0.800 | 0 | |||||||
|
7 | 0.790 | 0.360 | 8 | 93782444 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 | 0.800 | 0 | ||||||
|
1 | 1.000 | 0.200 | 8 | 93758565 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 2009 | 2017 | |||
|
2 | 0.925 | 0.360 | 8 | 93786253 | missense variant | G/A | snv | 6.0E-05 | 4.2E-05 | 0.700 | 1.000 | 3 | 2009 | 2017 | |||
|
2 | 0.925 | 0.280 | 8 | 93765414 | missense variant | G/A;T | snv | 2.4E-05; 4.0E-06 | 0.700 | 1.000 | 3 | 2009 | 2017 | ||||
|
1 | 1.000 | 0.200 | 8 | 93804784 | missense variant | A/G | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2009 | 2017 | ||||
|
2 | 0.925 | 0.280 | 8 | 93755851 | missense variant | G/T | snv | 7.4E-06 | 0.700 | 1.000 | 3 | 2009 | 2017 | ||||
|
2 | 0.925 | 0.280 | 8 | 93797184 | missense variant | C/A | snv | 0.700 | 1.000 | 3 | 2009 | 2017 | |||||
|
2 | 0.925 | 0.280 | 8 | 93758559 | missense variant | C/G | snv | 0.700 | 1.000 | 3 | 2009 | 2017 | |||||
|
2 | 0.925 | 0.280 | 8 | 93780647 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 2009 | 2017 | ||||
|
2 | 0.925 | 0.280 | 8 | 93787884 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 2009 | 2017 | |||||
|
2 | 0.925 | 0.360 | 4 | 15599614 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.280 | 8 | 93786287 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.882 | 0.360 | 16 | 53645694 | stop gained | G/A | snv | 2.0E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
5 | 0.827 | 0.360 | 16 | 53652637 | stop gained | G/A | snv | 6.4E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.360 | 16 | 53645895 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 4 | 15597452 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 8 | 93763874 | stop gained | C/T | snv | 0.700 | 0 |