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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.776 | 0.240 | 2 | 216109091 | splice region variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.776 | 0.240 | 2 | 216196997 | intron variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
18 | 0.701 | 0.280 | 5 | 83075927 | intron variant | T/G | snv | 9.2E-02 | 0.030 | 1.000 | 3 | 2009 | 2013 | ||||
|
14 | 0.724 | 0.320 | 5 | 83076846 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
13 | 0.742 | 0.240 | 5 | 83076927 | intron variant | C/T | snv | 1.7E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.763 | 0.200 | 5 | 83075876 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
19 | 0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 | 0.030 | 1.000 | 3 | 2007 | 2013 | |||
|
18 | 0.708 | 0.240 | 5 | 83142293 | intron variant | GATGAGGAAACTAACTCTCAGTGGTGTTTA/- | delins | 0.48 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
15 | 0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||
|
19 | 0.689 | 0.280 | 5 | 83204915 | missense variant | G/T | snv | 2.3E-02 | 1.4E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
5 | 0.827 | 0.120 | 7 | 152677078 | upstream gene variant | C/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
37 | 0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.100 | 0.615 | 13 | 2004 | 2016 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.080 | 0.750 | 8 | 2008 | 2016 | |||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.080 | 0.875 | 8 | 2007 | 2017 | ||||
|
6 | 0.807 | 0.160 | 19 | 43570445 | intron variant | T/G | snv | 0.80 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 19 | 43573355 | intron variant | G/A | snv | 0.60 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 19 | 43554087 | intron variant | C/T | snv | 0.60 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
60 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 0.100 | 1.000 | 11 | 2005 | 2016 | |||
|
53 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 0.100 | 1.000 | 10 | 2006 | 2016 | |||
|
11 | 0.742 | 0.320 | 6 | 43771240 | synonymous variant | C/G;T | snv | 8.5E-06; 0.16 | 0.030 | 1.000 | 3 | 2010 | 2019 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.030 | 0.667 | 3 | 2017 | 2019 | |||||
|
62 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
7 | 0.790 | 0.200 | 6 | 43782020 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2017 | 2017 |