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 | 0.120 | 11 | 57611937 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 57602081 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.120 | 11 | 57602098 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 57614338 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 57614345 | stop gained | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 57599882 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 57600167 | frameshift variant | TACC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 57611934 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 57600179 | missense variant | A/G | snv | 2.3E-04 | 3.1E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.160 | 11 | 57614475 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 17 | 1988 | 2018 | |||||
|
1 | 1.000 | 0.120 | 11 | 57600377 | missense variant | G/A | snv | 0.800 | 1.000 | 17 | 1988 | 2018 | |||||
|
3 | 0.882 | 0.160 | 11 | 57614474 | missense variant | C/A;T | snv | 0.800 | 1.000 | 17 | 1988 | 2018 | |||||
|
2 | 0.925 | 0.160 | 11 | 57614450 | missense variant | G/A | snv | 0.700 | 1.000 | 16 | 1988 | 2014 | |||||
|
2 | 0.925 | 0.160 | 11 | 57614439 | missense variant | T/A | snv | 0.700 | 1.000 | 16 | 1988 | 2014 | |||||
|
2 | 0.925 | 0.120 | 11 | 57614472 | missense variant | C/T | snv | 0.700 | 1.000 | 16 | 1988 | 2014 | |||||
|
1 | 1.000 | 0.120 | 11 | 57600288 | missense variant | A/G | snv | 0.700 | 1.000 | 16 | 1988 | 2014 | |||||
|
1 | 1.000 | 0.120 | 11 | 57600336 | missense variant | C/T | snv | 0.700 | 1.000 | 16 | 1988 | 2014 | |||||
|
1 | 1.000 | 0.120 | 11 | 57606013 | missense variant | T/C | snv | 0.700 | 1.000 | 16 | 1988 | 2014 | |||||
|
1 | 1.000 | 0.120 | 11 | 57606019 | missense variant | T/A | snv | 0.700 | 1.000 | 16 | 1988 | 2014 | |||||
|
1 | 1.000 | 0.120 | 11 | 57606413 | missense variant | T/C | snv | 0.700 | 1.000 | 16 | 1988 | 2014 | |||||
|
1 | 1.000 | 0.120 | 11 | 57614367 | missense variant | T/A | snv | 0.700 | 1.000 | 16 | 1988 | 2014 | |||||
|
1 | 1.000 | 0.120 | 11 | 57614400 | missense variant | T/C | snv | 0.700 | 1.000 | 16 | 1988 | 2014 | |||||
|
1 | 1.000 | 0.120 | 11 | 57614418 | missense variant | T/C | snv | 0.700 | 1.000 | 16 | 1988 | 2014 | |||||
|
1 | 1.000 | 0.120 | 11 | 57614496 | missense variant | T/G | snv | 0.700 | 1.000 | 16 | 1988 | 2014 | |||||
|
1 | 1.000 | 0.120 | 11 | 57614568 | missense variant | A/G | snv | 0.700 | 1.000 | 16 | 1988 | 2014 |