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 | 1 | 179552625 | missense variant | G/A | snv | 4.0E-06 | 3.5E-05 | 0.800 | 1.000 | 16 | 2000 | 2015 | |||
|
1 | 1.000 | 0.080 | 1 | 179551304 | missense variant | G/A | snv | 0.700 | 1.000 | 14 | 2000 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 179561315 | missense variant | A/G | snv | 0.700 | 1.000 | 14 | 2000 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 179561324 | missense variant | A/C | snv | 7.0E-06 | 0.700 | 1.000 | 14 | 2000 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 179564779 | missense variant | C/T | snv | 3.6E-05 | 2.8E-05 | 0.700 | 1.000 | 14 | 2000 | 2015 | |||
|
1 | 1.000 | 0.080 | 1 | 179575780 | missense variant | C/T | snv | 2.0E-05 | 2.4E-04 | 0.700 | 1.000 | 14 | 2000 | 2015 | |||
|
1 | 1.000 | 0.080 | 1 | 179551360 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05; 2.0E-05 | 0.700 | 1.000 | 14 | 2000 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 179575782 | missense variant | T/A | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 179575777 | stop gained | C/A;T | snv | 9.9E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 179557143 | missense variant | C/T | snv | 5.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 179564703 | missense variant | C/A;G | snv | 4.0E-06; 2.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 179551327 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 1 | 179552605 | missense variant | G/A;C | snv | 2.0E-05; 4.0E-06 | 0.800 | 1.000 | 22 | 2000 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 179557227 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.800 | 1.000 | 20 | 2000 | 2015 | |||
|
2 | 0.925 | 0.080 | 1 | 179554491 | missense variant | A/T | snv | 1.6E-05 | 1.0E-04 | 0.800 | 1.000 | 18 | 2000 | 2015 | |||
|
2 | 0.925 | 0.080 | 1 | 179559711 | missense variant | G/A | snv | 0.800 | 1.000 | 16 | 2000 | 2015 | |||||
|
2 | 0.925 | 0.080 | 1 | 179575591 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 14 | 2000 | 2015 | |||||
|
2 | 0.925 | 0.080 | 1 | 179559734 | missense variant | T/A;C | snv | 0.800 | 1.000 | 14 | 2000 | 2015 | |||||
|
2 | 0.925 | 0.080 | 1 | 179551435 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 2002 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 179559746 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 7 | 2004 | 2017 | |||||
|
2 | 0.925 | 0.080 | 1 | 179551377 | frameshift variant | A/- | del | 1.2E-05 | 0.700 | 1.000 | 6 | 2004 | 2013 | ||||
|
2 | 0.925 | 0.080 | 1 | 179552614 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2002 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 179557231 | splice acceptor variant | C/A | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 2002 | 2006 | ||||
|
2 | 0.925 | 0.080 | 1 | 179557179 | stop gained | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.700 | 1.000 | 2 | 2001 | 2005 | ||||
|
2 | 0.925 | 0.080 | 1 | 179552602 | splice donor variant | C/T | snv | 0.700 | 1.000 | 2 | 2013 | 2014 |