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 | 7 | 92494357 | missense variant | A/G;T | snv | 7.2E-05; 4.0E-06 | 0.800 | 1.000 | 3 | 2005 | 2016 | ||||
|
1 | 1.000 | 0.200 | 7 | 92507055 | missense variant | C/G;T | snv | 4.0E-06; 2.4E-05 | 0.800 | 1.000 | 2 | 2015 | 2016 | ||||
|
52 | 0.689 | 0.480 | 7 | 92501562 | missense variant | C/T | snv | 3.2E-04 | 3.5E-04 | 0.700 | 1.000 | 9 | 1997 | 2016 | |||
|
4 | 0.882 | 0.360 | 7 | 92503169 | frameshift variant | -/A | delins | 5.0E-04 | 5.1E-04 | 0.700 | 1.000 | 7 | 1999 | 2017 | |||
|
4 | 0.882 | 0.360 | 7 | 92494331 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 3 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.200 | 7 | 92503153 | missense variant | A/C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
1 | 1.000 | 0.200 | 7 | 92507005 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.360 | 7 | 92504812 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.360 | 7 | 92517275 | splice donor variant | C/A;T | snv | 1.6E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.360 | 7 | 92494491 | frameshift variant | T/- | del | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.360 | 7 | 92491330 | frameshift variant | -/G | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 7 | 92489310 | stop gained | C/T | snv | 0.700 | 0 |