| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 100734308 | synonymous variant | T/A;C | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||||
|
17 | 7675109 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
0.882 | 0.120 | 2 | 201141373 | splice acceptor variant | G/A | snv | 0.18 | 0.26 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.120 | 11 | 111352386 | 3 prime UTR variant | A/G | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 1 | 206778859 | intron variant | C/A;G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.120 | 7 | 148809375 | missense variant | G/C | snv |
|
0.710 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 5 | 157494947 | intron variant | A/G | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 4 | 85995065 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.925 | 0.120 | 1 | 3731497 | missense variant | G/A | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.851 | 0.120 | 15 | 90088681 | missense variant | A/C | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 11 | 126292650 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 17 | 7673749 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.925 | 0.120 | 1 | 207766701 | intron variant | G/T | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 1 | 3730979 | missense variant | G/A | snv | 1.2E-05; 8.2E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.925 | 0.120 | 6 | 14636732 | intergenic variant | T/C | snv | 0.74 |
|
0.810 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 14 | 52274253 | intron variant | A/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.120 | 12 | 6601978 | missense variant | A/C;G | snv | 2.0E-05; 1.2E-04; 5.2E-03 | 1.7E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.120 | 14 | 103018488 | intron variant | T/C | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 13 | 102872275 | missense variant | G/A | snv | 4.0E-06 | 4.9E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 20 | 63695147 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.807 | 0.160 | 2 | 29209816 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.160 | 1 | 206779403 | intron variant | T/A | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.160 | 11 | 126292695 | missense variant | G/A;C;T | snv | 2.8E-03; 1.2E-05 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.807 | 0.200 | 7 | 148811635 | missense variant | T/A;G | snv |
|
0.720 | 1.000 | 2 | 2012 | 2016 | |||||||||
|
0.689 | 0.200 | 15 | 90088606 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 |