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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.200 | 19 | 54982440 | missense variant | A/T | snv | 8.0E-06 | 3.5E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.200 | 11 | 94437206 | stop gained | G/A;C;T | snv | 2.8E-05; 4.0E-06 | 0.700 | 1.000 | 6 | 1993 | 2015 | ||||
|
4 | 0.882 | 0.320 | 11 | 94447288 | stop gained | G/A | snv | 6.0E-05 | 7.0E-05 | 0.710 | 1.000 | 3 | 2001 | 2017 | |||
|
6 | 0.827 | 0.320 | 11 | 94467821 | stop gained | G/A;C;T | snv | 5.2E-05; 4.0E-06; 7.2E-05 | 0.700 | 1.000 | 3 | 2014 | 2017 | ||||
|
6 | 0.851 | 0.320 | 11 | 94476318 | missense variant | C/G | snv | 0.720 | 1.000 | 2 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.200 | 11 | 94479726 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 1 | 1999 | 1999 | |||
|
3 | 0.925 | 0.200 | 11 | 94476288 | splice donor variant | C/T | snv | 2.0E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.200 | 11 | 94435900 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 94459466 | missense variant | G/T | snv | 4.0E-06; 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 11 | 94490909 | missense variant | A/G | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.200 | 11 | 94456323 | stop gained | C/A;T | snv | 3.2E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.200 | 11 | 94435846 | frameshift variant | -/GAAGTGGTAGGAAAAATGTC | delins | 7.0E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.200 | 11 | 94435901 | splice acceptor variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
17 | 0.742 | 0.360 | 11 | 94447276 | stop gained | G/A;C;T | snv | 2.8E-05; 4.0E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 8 | 89953375 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 |