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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.790 | 0.160 | 15 | 78606381 | intron variant | C/A;T | snv | 0.810 | 1.000 | 7 | 2011 | 2018 | |||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.040 | 1.000 | 4 | 2012 | 2019 | ||||
|
53 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 0.040 | 1.000 | 4 | 2010 | 2019 | ||||
|
14 | 0.716 | 0.400 | 11 | 102865911 | missense variant | T/C;G | snv | 7.1E-02; 2.5E-04 | 0.040 | 1.000 | 4 | 2010 | 2018 | ||||
|
7 | 0.882 | 0.120 | 14 | 92649065 | intron variant | G/C;T | snv | 0.700 | 1.000 | 4 | 2014 | 2019 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.030 | 1.000 | 3 | 2010 | 2018 | ||||
|
9 | 0.827 | 0.160 | 2 | 85666618 | missense variant | G/A;C | snv | 0.50 | 0.030 | 0.667 | 3 | 2005 | 2014 | ||||
|
2 | 1.000 | 0.040 | 14 | 94614674 | missense variant | T/A;C | snv | 0.030 | 1.000 | 3 | 1993 | 2000 | |||||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.030 | 1.000 | 3 | 2010 | 2016 | ||||
|
4 | 0.925 | 0.080 | 4 | 88965146 | intron variant | C/G;T | snv | 0.710 | 1.000 | 3 | 2010 | 2015 | |||||
|
32 | 0.649 | 0.640 | 19 | 41353016 | missense variant | G/A;C | snv | 0.030 | 0.333 | 3 | 2004 | 2017 | |||||
|
4 | 0.882 | 0.080 | 10 | 79941966 | missense variant | T/C;G | snv | 0.66 | 0.030 | 0.667 | 3 | 2010 | 2019 | ||||
|
10 | 0.807 | 0.080 | 15 | 78622903 | upstream gene variant | C/A;T | snv | 0.030 | 1.000 | 3 | 2012 | 2014 | |||||
|
3 | 1.000 | 0.040 | 15 | 78490935 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2019 | |||||
|
6 | 1.000 | 0.040 | 3 | 25479091 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||
|
3 | 1.000 | 0.040 | 2 | 228705203 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||
|
10 | 0.763 | 0.200 | 7 | 117509093 | missense variant | G/A;T | snv | 1.5E-02; 8.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2008 | ||||
|
37 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2013 | 2017 | |||||
|
42 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 0.020 | 1.000 | 2 | 2004 | 2007 | ||||
|
1 | 1.000 | 0.040 | 6 | 108945052 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||
|
37 | 0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 | 0.710 | 1.000 | 2 | 1985 | 2015 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2015 | ||||
|
64 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2019 | ||||
|
3 | 0.882 | 0.040 | 2 | 223980202 | non coding transcript exon variant | C/A;G | snv | 0.020 | 1.000 | 2 | 2009 | 2012 | |||||
|
5 | 1.000 | 0.040 | 5 | 148476770 | intron variant | G/A;C | snv | 0.44; 4.1E-06 | 0.700 | 1.000 | 2 | 2017 | 2019 |