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 | 0.160 | 12 | 101786014 | missense variant | T/A;C | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 15 | 2005 | 2017 | ||||
|
1 | 1.000 | 0.160 | 12 | 101764563 | missense variant | A/C | snv | 2.8E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 12 | 101796764 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 12 | 101764384 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 12 | 101764257 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 12 | 101761343 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 12 | 101760133 | frameshift variant | -/G | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 12 | 101757655 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 12 | 101757211 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 12 | 101753540 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 12 | 101764729 | frameshift variant | A/TTT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 12 | 101760044 | frameshift variant | -/TAGG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 12 | 101771079 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 12 | 101765175 | frameshift variant | -/TATATATA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 12 | 101771097 | stop gained | G/A | snv | 4.0E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 12 | 101764985 | missense variant | TG/CA | mnv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 12 | 101770109 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.800 | 1.000 | 17 | 2005 | 2017 | |||
|
2 | 0.925 | 0.160 | 12 | 101770085 | missense variant | T/C;G | snv | 0.700 | 1.000 | 15 | 2005 | 2017 | |||||
|
2 | 0.925 | 0.160 | 12 | 101770185 | missense variant | A/G | snv | 7.0E-06 | 0.800 | 1.000 | 15 | 2005 | 2017 | ||||
|
2 | 0.925 | 0.160 | 12 | 101830632 | missense variant | G/T | snv | 8.0E-06 | 0.700 | 1.000 | 15 | 2005 | 2017 | ||||
|
2 | 0.925 | 0.160 | 12 | 101790019 | missense variant | C/A | snv | 0.700 | 1.000 | 15 | 2005 | 2017 | |||||
|
2 | 0.925 | 0.160 | 12 | 101770518 | missense variant | C/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 15 | 2005 | 2017 | ||||
|
2 | 0.925 | 0.160 | 12 | 101770097 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 15 | 2005 | 2017 | ||||
|
2 | 0.925 | 0.160 | 12 | 101768120 | missense variant | C/T | snv | 0.700 | 1.000 | 15 | 2005 | 2017 | |||||
|
2 | 0.925 | 0.160 | 12 | 101768064 | missense variant | A/C | snv | 0.700 | 1.000 | 15 | 2005 | 2017 |