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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
28 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 0.700 | 1.000 | 3 | 2012 | 2013 | |||||
|
14 | 0.763 | 0.080 | 1 | 226064454 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2012 | 2013 | |||||
|
17 | 0.742 | 0.080 | 6 | 27872233 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
8 | 0.882 | 0.120 | 15 | 90088607 | missense variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2009 | 2015 | |||||
|
23 | 0.689 | 0.200 | 15 | 90088606 | missense variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2009 | 2015 | |||||
|
5 | 0.851 | 0.080 | 17 | 39725721 | missense variant | G/A | snv | 0.800 | 1.000 | 1 | 2004 | 2004 | |||||
|
12 | 0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
12 | 0.752 | 0.360 | 17 | 7675052 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
47 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
18 | 0.716 | 0.360 | 17 | 7673821 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 22 | 20997253 | missense variant | C/T | snv | 4.4E-05 | 9.1E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.882 | 22 | 20990476 | missense variant | G/A | snv | 0.700 | 0 |