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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.120 | 13 | 102872275 | missense variant | G/A | snv | 4.0E-06 | 4.9E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
52 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 0.120 | 14 | 103018488 | intron variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.200 | 19 | 10338716 | synonymous variant | A/G | snv | 0.81 | 0.85 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.925 | 0.120 | 11 | 111352386 | 3 prime UTR variant | A/G | snv | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.040 | 1.000 | 4 | 2004 | 2017 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2017 | |||
|
23 | 0.677 | 0.480 | 11 | 117993348 | missense variant | A/G | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.925 | 0.120 | 11 | 126292650 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 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 | ||||
|
27 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 0.040 | 1.000 | 4 | 2013 | 2019 | ||||
|
3 | 0.925 | 0.120 | 6 | 14636732 | intergenic variant | T/C | snv | 0.74 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.120 | 7 | 148809375 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
8 | 0.807 | 0.200 | 7 | 148811635 | missense variant | T/A;G | snv | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||
|
3 | 0.925 | 0.120 | 5 | 157494947 | intron variant | A/G | snv | 0.10 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
45 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
18 | 0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
30 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.882 | 0.120 | 2 | 201141373 | splice acceptor variant | G/A | snv | 0.18 | 0.26 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 0.882 | 0.240 | 13 | 20189503 | missense variant | C/T | snv | 5.4E-02 | 2.2E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.020 | 1.000 | 2 | 2008 | 2010 |