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 | 14 | 22778850 | missense variant | G/A;C | snv | 4.0E-06 | 0.810 | 1.000 | 9 | 1998 | 2019 | ||||
|
1 | 1.000 | 0.080 | 14 | 22813238 | missense variant | C/A | snv | 4.0E-06 | 1.4E-05 | 0.800 | 1.000 | 8 | 1998 | 2008 | |||
|
1 | 1.000 | 0.080 | 14 | 22813385 | missense variant | G/A | snv | 0.800 | 1.000 | 8 | 1998 | 2008 | |||||
|
1 | 1.000 | 0.080 | 14 | 22813241 | missense variant | G/A | snv | 7.0E-06 | 0.800 | 1.000 | 8 | 1998 | 2008 | ||||
|
1 | 1.000 | 0.080 | 14 | 22775446 | missense variant | T/A | snv | 0.800 | 1.000 | 8 | 1998 | 2008 | |||||
|
1 | 1.000 | 0.080 | 14 | 22774441 | missense variant | G/T | snv | 4.0E-06 | 0.800 | 1.000 | 8 | 1998 | 2008 | ||||
|
1 | 1.000 | 0.080 | 14 | 22773681 | missense variant | A/G | snv | 0.800 | 1.000 | 8 | 1998 | 2008 | |||||
|
1 | 1.000 | 0.080 | 14 | 22813250 | missense variant | A/G;T | snv | 0.800 | 1.000 | 8 | 1998 | 2008 | |||||
|
1 | 1.000 | 0.080 | 14 | 22813028 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 | 0.800 | 1.000 | 8 | 1998 | 2008 | |||
|
1 | 1.000 | 0.080 | 14 | 22812981 | missense variant | C/G | snv | 1.2E-05 | 0.800 | 1.000 | 8 | 1998 | 2008 | ||||
|
1 | 1.000 | 0.080 | 14 | 22812945 | missense variant | A/G | snv | 0.800 | 1.000 | 8 | 1998 | 2008 | |||||
|
1 | 1.000 | 0.080 | 14 | 22779988 | missense variant | G/A | snv | 0.800 | 1.000 | 8 | 1998 | 2008 | |||||
|
1 | 1.000 | 0.080 | 14 | 22779980 | missense variant | T/C | snv | 0.800 | 1.000 | 8 | 1998 | 2008 | |||||
|
1 | 1.000 | 0.080 | 14 | 22778810 | missense variant | C/A;G | snv | 4.0E-06 | 0.800 | 1.000 | 8 | 1998 | 2008 | ||||
|
1 | 1.000 | 0.080 | 14 | 22776307 | missense variant | A/G | snv | 4.0E-06 | 0.800 | 1.000 | 8 | 1998 | 2008 | ||||
|
1 | 1.000 | 0.080 | 14 | 22775833 | missense variant | C/A | snv | 0.800 | 1.000 | 8 | 1998 | 2008 | |||||
|
1 | 1.000 | 0.080 | 14 | 22775538 | missense variant | A/C | snv | 8.0E-06 | 2.1E-05 | 0.800 | 1.000 | 8 | 1998 | 2008 | |||
|
1 | 1.000 | 0.080 | 14 | 22775526 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 8 | 1998 | 2008 | ||||
|
1 | 1.000 | 0.080 | 14 | 22773686 | frameshift variant | C/- | del | 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 2 | 2000 | 2002 | |||
|
1 | 1.000 | 0.080 | 14 | 22813398 | start lost | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 22774371 | stop gained | G/A;T | snv | 4.0E-06; 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 14 | 22778837 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 14 | 22773967 | frameshift variant | T/- | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 14 | 22775938 | splice acceptor variant | T/A;C | snv | 4.3E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 14 | 22775442 | splice donor variant | A/- | del | 0.700 | 0 |