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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 0.800 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 10 | 129957300 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 10 | 129963462 | missense variant | T/C | snv | 0.800 | 0 | |||||||||
|
1 | 1.000 | 10 | 129958997 | missense variant | T/C | snv | 0.800 | 0 | |||||||||
|
1 | 1.000 | 10 | 129877825 | missense variant | C/A | snv | 0.800 | 0 | |||||||||
|
8 | 0.851 | 0.120 | 10 | 129963375 | frameshift variant | TCTC/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 10 | 129877788 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 10 | 129877811 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 10 | 129957258 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 10 | 129958957 | missense variant | CA/AG | mnv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 10 | 129877779 | missense variant | G/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 3 | 2017 | 2017 | |||||
|
1 | 1.000 | 10 | 129957282 | missense variant | G/A | snv | 0.800 | 1.000 | 3 | 2017 | 2017 |