Source: CURATED ×
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 | 0.240 | 6 | 41159790 | splice donor variant | A/G | snv | 8.0E-06 | 0.710 | 1.000 | 0 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.240 | 19 | 35907534 | frameshift variant | C/- | del | 0.700 | 1.000 | 2 | 2000 | 2002 | |||||
|
2 | 0.925 | 0.240 | 6 | 41161421 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.240 | 19 | 35908227 | start lost | A/G | snv | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
2 | 0.882 | 0.280 | 6 | 41161277 | missense variant | A/C | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.240 | 6 | 41163037 | splice region variant | CCT/- | delins | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.790 | 0.320 | 6 | 41161557 | stop gained | G/A | snv | 2.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 0.807 | 0.320 | 6 | 41161457 | missense variant | G/A | snv | 5.6E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.240 | 19 | 35907559 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 19 | 35907530 | missense variant | C/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.240 | 19 | 35907232 | stop gained | C/A;T | snv | 8.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.240 | 6 | 41161385 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 6 | 41161341 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 6 | 41163043 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 0.827 | 0.320 | 6 | 41161541 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 |