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 | Y | 18991654 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.200 | Y | 18991085 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.827 | 0.320 | Y | 18991182 | intron variant | CA/- | del | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
10 | 0.763 | 0.280 | 5 | 112810420 | intron variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.060 | 1.000 | 6 | 1998 | 2015 | |||
|
14 | 0.752 | 0.320 | 5 | 112841059 | missense variant | T/A;G | snv | 0.79 | 0.030 | 1.000 | 3 | 2003 | 2010 | ||||
|
17 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 0.020 | 1.000 | 2 | 2007 | 2015 | |||
|
2 | 0.925 | 0.200 | 5 | 112767213 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.200 | 5 | 112767356 | missense variant | A/G | snv | 3.5E-04 | 2.7E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.200 | 5 | 112843972 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.200 | 5 | 112827951 | missense variant | G/A;C | snv | 3.2E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.200 | 5 | 112840500 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.200 | 5 | 112840377 | missense variant | G/C;T | snv | 8.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.200 | 5 | 112838644 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
11 | 0.763 | 0.360 | 6 | 106971734 | missense variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.851 | 0.240 | Y | 18992540 | non coding transcript exon variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.200 | 5 | 112828939 | synonymous variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.200 | 5 | 112827976 | synonymous variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.200 | 5 | 112821942 | synonymous variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.060 | 1.000 | 6 | 1998 | 2015 | |||||
|
14 | 0.742 | 0.200 | 5 | 112839515 | frameshift variant | AAAGA/- | delins | 0.010 | 1.000 | 1 | 2018 | 2018 |