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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.900 | 0.996 | 260 | 2005 | 2020 | |||
|
15 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 0.900 | 0.925 | 53 | 2006 | 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 | |||||
|
6 | 0.807 | 0.240 | 6 | 32441753 | intron variant | G/A | snv | 0.56 | 0.900 | 0.818 | 11 | 2010 | 2015 | ||||
|
3 | 0.882 | 0.080 | 18 | 43093415 | intron variant | A/G | snv | 0.33 | 0.890 | 0.909 | 11 | 2012 | 2020 | ||||
|
3 | 0.925 | 0.080 | 4 | 15735478 | intron variant | C/A;G | snv | 0.43 | 0.880 | 0.846 | 13 | 2011 | 2019 | ||||
|
3 | 0.882 | 0.080 | 4 | 76277833 | intron variant | C/T | snv | 0.38 | 0.880 | 0.667 | 12 | 2009 | 2017 | ||||
|
3 | 1.000 | 0.040 | 4 | 858525 | intron variant | C/T | snv | 8.1E-02 | 0.870 | 0.889 | 9 | 2009 | 2015 | ||||
|
4 | 0.882 | 0.080 | 4 | 89757390 | intron variant | G/A;T | snv | 0.860 | 1.000 | 12 | 2009 | 2018 | |||||
|
3 | 0.925 | 0.080 | 4 | 89720189 | intron variant | T/A;C | snv | 0.850 | 1.000 | 11 | 2010 | 2016 | |||||
|
3 | 1.000 | 0.040 | 12 | 122811747 | intron variant | G/A | snv | 0.39 | 0.850 | 0.857 | 7 | 2011 | 2016 | ||||
|
1 | 1.000 | 0.040 | 4 | 15735725 | intron variant | G/A;T | snv | 0.850 | 1.000 | 7 | 2011 | 2019 | |||||
|
1 | 1.000 | 0.040 | 1 | 205795512 | non coding transcript exon variant | G/A | snv | 0.77 | 0.70 | 0.850 | 1.000 | 7 | 2011 | 2019 | |||
|
1 | 1.000 | 0.040 | 1 | 205744250 | intron variant | G/A | snv | 0.88 | 0.850 | 1.000 | 6 | 2009 | 2018 | ||||
|
3 | 0.925 | 0.040 | 1 | 205783537 | non coding transcript exon variant | A/G | snv | 0.64 | 0.840 | 1.000 | 6 | 2009 | 2017 | ||||
|
14 | 0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 | 0.840 | 0.500 | 4 | 2011 | 2019 | |||
|
2 | 0.925 | 0.080 | 2 | 134782397 | intron variant | C/T | snv | 0.62 | 0.830 | 1.000 | 6 | 2012 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 168260515 | intergenic variant | G/T | snv | 0.15 | 0.820 | 1.000 | 5 | 2011 | 2015 | ||||
|
4 | 0.925 | 0.120 | 17 | 45637484 | non coding transcript exon variant | G/A;C;T | snv | 0.14 | 0.820 | 1.000 | 5 | 2011 | 2014 | ||||
|
2 | 1.000 | 0.040 | 4 | 864544 | intron variant | C/G;T | snv | 0.820 | 1.000 | 3 | 2010 | 2014 | |||||
|
3 | 0.882 | 0.160 | 6 | 32420032 | intergenic variant | T/C | snv | 0.17 | 0.820 | 1.000 | 3 | 2012 | 2020 | ||||
|
1 | 1.000 | 0.040 | 3 | 183103487 | intron variant | G/A | snv | 0.12 | 0.810 | 1.000 | 4 | 2011 | 2013 | ||||
|
5 | 0.851 | 0.160 | 17 | 45846317 | missense variant | A/G | snv | 0.15 | 0.14 | 0.810 | 1.000 | 4 | 2011 | 2019 | |||
|
2 | 1.000 | 0.040 | 12 | 40034759 | intron variant | G/A;T | snv | 0.810 | 1.000 | 4 | 2009 | 2016 |