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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.100 | 0.980 | 153 | 1997 | 2020 | |||||
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.100 | 0.957 | 70 | 1998 | 2019 | |||||
|
9 | 0.776 | 0.160 | 16 | 46662452 | missense variant | C/T | snv | 0.100 | 0.957 | 23 | 2012 | 2019 | |||||
|
21 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 0.100 | 0.950 | 20 | 2004 | 2019 | ||||
|
9 | 0.776 | 0.240 | 4 | 89716450 | intron variant | G/A | snv | 0.54 | 0.900 | 1.000 | 19 | 2008 | 2019 | ||||
|
7 | 0.851 | 0.080 | 4 | 89718364 | intron variant | G/A;C;T | snv | 0.900 | 1.000 | 16 | 2009 | 2020 | |||||
|
3 | 0.925 | 0.080 | 4 | 15735478 | intron variant | C/A;G | snv | 0.43 | 0.880 | 0.846 | 13 | 2011 | 2019 | ||||
|
7 | 0.790 | 0.080 | 1 | 7984981 | missense variant | T/C | snv | 0.100 | 1.000 | 13 | 2003 | 2017 | |||||
|
4 | 0.882 | 0.080 | 4 | 89757390 | intron variant | G/A;T | snv | 0.860 | 1.000 | 12 | 2009 | 2018 | |||||
|
3 | 0.882 | 0.080 | 4 | 76277833 | intron variant | C/T | snv | 0.38 | 0.880 | 0.667 | 12 | 2009 | 2017 | ||||
|
3 | 0.882 | 0.080 | 18 | 43093415 | intron variant | A/G | snv | 0.33 | 0.890 | 0.909 | 11 | 2012 | 2020 | ||||
|
6 | 0.807 | 0.240 | 6 | 32441753 | intron variant | G/A | snv | 0.56 | 0.900 | 0.818 | 11 | 2010 | 2015 | ||||
|
3 | 0.925 | 0.080 | 4 | 89720189 | intron variant | T/A;C | snv | 0.850 | 1.000 | 11 | 2010 | 2016 | |||||
|
3 | 0.882 | 0.040 | 10 | 102244438 | upstream gene variant | G/A | snv | 0.14 | 0.100 | 0.818 | 11 | 2009 | 2014 | ||||
|
3 | 0.882 | 0.080 | 4 | 89725735 | 3 prime UTR variant | G/A | snv | 0.54 | 0.780 | 0.900 | 10 | 2007 | 2015 | ||||
|
10 | 0.827 | 0.120 | 11 | 2169802 | missense variant | C/T | snv | 0.090 | 1.000 | 9 | 2013 | 2020 | |||||
|
3 | 1.000 | 0.040 | 4 | 858525 | intron variant | C/T | snv | 8.1E-02 | 0.870 | 0.889 | 9 | 2009 | 2015 | ||||
|
1 | 1.000 | 0.040 | 10 | 86958785 | missense variant | G/C | snv | 0.080 | 1.000 | 8 | 1999 | 2018 | |||||
|
4 | 0.851 | 0.080 | 15 | 77671545 | intron variant | A/G | snv | 0.28 | 0.080 | 0.625 | 8 | 2010 | 2015 | ||||
|
3 | 1.000 | 0.040 | 12 | 122811747 | intron variant | G/A | snv | 0.39 | 0.850 | 0.857 | 7 | 2011 | 2016 | ||||
|
7 | 0.807 | 0.080 | 12 | 40310435 | missense variant | G/A | snv | 7.0E-06 | 0.070 | 1.000 | 7 | 2005 | 2017 | ||||
|
3 | 0.882 | 0.080 | 4 | 89704960 | intron variant | G/A | snv | 0.65 | 0.740 | 1.000 | 7 | 2014 | 2018 | ||||
|
9 | 0.827 | 0.080 | 4 | 89828154 | missense variant | C/T | snv | 0.070 | 1.000 | 7 | 2013 | 2020 | |||||
|
1 | 1.000 | 0.040 | 4 | 15735725 | intron variant | G/A;T | snv | 0.850 | 1.000 | 7 | 2011 | 2019 | |||||
|
7 | 0.790 | 0.080 | 1 | 20644639 | missense variant | G/A | snv | 0.070 | 0.857 | 7 | 2005 | 2015 |