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 | 8 | 1780415 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.800 | 1.000 | 8 | 2004 | 2016 | |||
|
1 | 1.000 | 0.120 | 8 | 1771142 | missense variant | G/A;C;T | snv | 4.0E-06; 2.4E-05 | 0.800 | 1.000 | 7 | 2004 | 2016 | ||||
|
1 | 1.000 | 0.120 | 8 | 1780512 | missense variant | A/G;T | snv | 2.0E-05; 3.3E-04 | 0.800 | 1.000 | 7 | 2004 | 2016 | ||||
|
1 | 1.000 | 0.120 | 8 | 1780495 | missense variant | G/C | snv | 0.800 | 1.000 | 7 | 2004 | 2016 | |||||
|
1 | 1.000 | 0.120 | 8 | 1771281 | missense variant | A/G | snv | 0.800 | 1.000 | 7 | 2004 | 2016 | |||||
|
1 | 1.000 | 0.120 | 8 | 1771374 | missense variant | T/G | snv | 0.800 | 1.000 | 7 | 2004 | 2016 | |||||
|
1 | 1.000 | 0.120 | 8 | 1771469 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 7 | 2004 | 2016 | ||||
|
1 | 1.000 | 0.120 | 8 | 1771100 | missense variant | C/A;G;T | snv | 2.0E-05; 4.0E-06 | 0.700 | 1.000 | 7 | 2004 | 2016 | ||||
|
1 | 1.000 | 0.120 | 8 | 1771527 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 7 | 2004 | 2016 | |||
|
1 | 1.000 | 0.120 | 8 | 1780287 | missense variant | A/G | snv | 0.800 | 1.000 | 7 | 2004 | 2016 | |||||
|
1 | 1.000 | 0.120 | 8 | 1780317 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 7 | 2004 | 2016 | ||||
|
1 | 1.000 | 0.120 | 8 | 1780367 | missense variant | G/A | snv | 4.4E-05 | 3.5E-05 | 0.700 | 1.000 | 7 | 2004 | 2016 | |||
|
1 | 1.000 | 0.120 | 8 | 1780326 | missense variant | T/G | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 2004 | 2016 | ||||
|
1 | 1.000 | 0.120 | 8 | 1780265 | frameshift variant | CT/- | delins | 0.700 | 1.000 | 3 | 2000 | 2012 | |||||
|
1 | 1.000 | 0.120 | 8 | 1780469 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2000 | 2017 | ||||
|
1 | 1.000 | 0.120 | 8 | 1771317 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 8 | 1771101 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 8 | 1771428 | missense variant | A/C;G;T | snv | 9.7E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 8 | 1771524 | missense variant | A/G | snv | 1.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 8 | 1771056 | start lost | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 8 | 1771104 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 8 | 1771257 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 8 | 1771280 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 8 | 1771360 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 8 | 1771366 | stop gained | G/A | snv | 0.700 | 0 |