Source: ALL
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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.200 | 19 | 7561509 | missense variant | C/A;T | snv | 3.8E-05 | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.160 | 19 | 7556463 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.160 | 19 | 7556502 | missense variant | C/T | snv | 0.800 | 1.000 | 2 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.160 | 19 | 7557185 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.160 | 19 | 7556526 | missense variant | T/C | snv | 0.800 | 1.000 | 2 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.160 | 19 | 7550003 | missense variant | G/T | snv | 0.800 | 1.000 | 2 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.160 | 19 | 7558861 | missense variant | C/G;T | snv | 4.1E-06; 1.2E-05 | 0.800 | 1.000 | 2 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.160 | 19 | 7558983 | stop gained | G/A;C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.160 | 19 | 7551361 | splice acceptor variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 19 | 7557222 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 19 | 7542054 | frameshift variant | -/G | delins | 0.700 | 0 |