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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 16 | 28482500 | stop gained | C/A;T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 11 | 6615442 | missense variant | C/G | snv | 2.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 8 | 1771124 | missense variant | C/G;T | snv | 1.0E-04; 2.4E-05 | 0.700 | 1.000 | 2 | 2000 | 2004 | ||||
|
2 | 0.925 | 0.120 | 11 | 6616004 | splice donor variant | C/G;T | snv | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 0.925 | 0.120 | 11 | 6617045 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.120 | 11 | 6619191 | splice region variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.160 | 8 | 1780498 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 16 | 28482160 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 0.700 | 1.000 | 6 | 1997 | 2013 | |||
|
2 | 0.925 | 0.120 | 1 | 40097236 | start lost | C/T | snv | 1.4E-05 | 0.700 | 1.000 | 5 | 1998 | 2007 | ||||
|
3 | 0.882 | 0.120 | 8 | 1780316 | missense variant | C/T | snv | 3.2E-05 | 7.0E-06 | 0.700 | 1.000 | 4 | 2004 | 2014 | |||
|
2 | 0.925 | 0.120 | 11 | 6616056 | missense variant | C/T | snv | 1.6E-05 | 4.9E-05 | 0.700 | 1.000 | 3 | 1998 | 2015 | |||
|
2 | 0.925 | 0.120 | 13 | 76996010 | stop gained | C/T | snv | 2.0E-05 | 7.7E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.120 | 11 | 6615542 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 11 | 6617621 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 1 | 40089409 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 6616374 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 11 | 6615217 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 20 | 63930871 | inframe deletion | CTC/- | delins | 0.700 | 1.000 | 5 | 2011 | 2013 | |||||
|
1 | 1.000 | 0.120 | 13 | 76995933 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 11 | 6617040 | stop gained | G/A | snv | 2.2E-04 | 2.4E-04 | 0.700 | 1.000 | 5 | 1997 | 2013 | |||
|
2 | 0.925 | 0.120 | 11 | 6615172 | missense variant | G/A | snv | 2.4E-05 | 0.700 | 1.000 | 4 | 1999 | 2013 | ||||
|
2 | 0.925 | 0.120 | 13 | 76996086 | stop gained | G/A | snv | 1.6E-05 | 3.5E-05 | 0.700 | 1.000 | 3 | 2009 | 2015 | |||
|
1 | 1.000 | 0.120 | 16 | 28486388 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 0.925 | 0.120 | 16 | 28489298 | stop gained | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.120 | 17 | 44351438 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |