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 | 0.040 | 12 | 47980597 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 12 | 109796638 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 12 | 109794406 | inframe deletion | AAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 12 | 109793945 | inframe insertion | -/GGA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 12 | 109800754 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 21563170 | frameshift variant | GG/- | delins | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 1 | 21554124 | frameshift variant | AACT/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 7 | 94423102 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 12 | 109788483 | missense variant | G/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 12 | 109798768 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 12 | 109788462 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 12 | 109798775 | missense variant | T/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 12 | 109784379 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 12 | 109792671 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 11 | 6633485 | missense variant | C/G;T | snv | 1.1E-03 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 12 | 109808308 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 12 | 109803113 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 12 | 109814531 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 12 | 109798742 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 12 | 109792704 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 12 | 109792702 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 12 | 109792689 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 12 | 109792678 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 12 | 109792664 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 12 | 109792403 | missense variant | G/T | snv | 0.700 | 0 |