| 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 | 14 | 64801797 | missense variant | A/G | snv | 0.800 | 1.000 | 2 | 1993 | 2009 | ||||||
|
2 | 0.925 | 0.080 | 14 | 64767827 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 1995 | 1996 | |||||
|
1 | 1.000 | 14 | 64796560 | frameshift variant | CACGAGGC/- | delins | 0.700 | 1.000 | 1 | 1998 | 1998 | ||||||
|
1 | 1.000 | 14 | 64772678 | stop gained | C/A;T | snv | 1.0E-04; 1.2E-05 | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 14 | 64823094 | start lost | T/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 14 | 64784333 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 14 | 64771060 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 14 | 64774392 | splice region variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 14 | 64787102 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 14 | 64801754 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 14 | 64772867 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 14 | 64794466 | splice donor variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 14 | 64793751 | frameshift variant | G/- | del | 0.700 | 0 |