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 | 17 | 44007611 | missense variant | T/C | snv | 4.3E-06 | 0.800 | 1.000 | 3 | 2003 | 2016 | ||||
|
1 | 1.000 | 0.120 | 17 | 44007772 | missense variant | T/C;G | snv | 0.800 | 1.000 | 3 | 2003 | 2016 | |||||
|
1 | 1.000 | 0.120 | 17 | 44007692 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2003 | 2016 | |||||
|
1 | 1.000 | 0.120 | 17 | 44007496 | splice donor variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.120 | 17 | 44006584 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44007621 | missense variant | G/A;C | snv | 8.7E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 44007418 | missense variant | A/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 44006638 | frameshift variant | G/- | del | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 44006527 | splice acceptor variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44007628 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44008548 | missense variant | G/A | snv | 2.0E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 17 | 44008531 | missense variant | A/G | snv | 4.0E-06; 4.4E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 17 | 44005709 | missense variant | A/G | snv | 1.3E-05 | 0.700 | 1.000 | 3 | 2003 | 2016 | ||||
|
1 | 1.000 | 0.120 | 17 | 44005808 | missense variant | T/C | snv | 0.710 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.120 | 17 | 44006157 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44006113 | missense variant | C/T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 44004765 | frameshift variant | -/AGATCGGAAGA | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44005780 | stop gained | G/A;T | snv | 9.6E-06 | 0.700 | 0 |