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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
18 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 0.790 | 1.000 | 10 | 2012 | 2019 | |||
|
3 | 0.882 | 0.080 | 4 | 89725735 | 3 prime UTR variant | G/A | snv | 0.54 | 0.780 | 0.900 | 10 | 2007 | 2015 | ||||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.100 | 0.700 | 10 | 2004 | 2019 | ||||
|
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 | ||||
|
5 | 0.851 | 0.080 | 4 | 89828156 | missense variant | A/C | snv | 8.0E-05 | 7.0E-05 | 0.090 | 1.000 | 9 | 2013 | 2019 | |||
|
7 | 0.807 | 0.080 | 3 | 184327401 | missense variant | G/A;T | snv | 2.1E-04 | 2.8E-04 | 0.080 | 0.875 | 8 | 2013 | 2015 | |||
|
1 | 1.000 | 0.040 | 10 | 86958785 | missense variant | G/C | snv | 0.080 | 1.000 | 8 | 1999 | 2018 | |||||
|
7 | 0.790 | 0.120 | 12 | 40309109 | missense variant | G/A;T | snv | 8.5E-02; 1.6E-05 | 0.080 | 1.000 | 8 | 2014 | 2019 | ||||
|
28 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 0.080 | 0.875 | 8 | 2013 | 2016 | ||||
|
4 | 0.851 | 0.080 | 15 | 77671545 | intron variant | A/G | snv | 0.28 | 0.080 | 0.625 | 8 | 2010 | 2015 | ||||
|
19 | 0.695 | 0.400 | 2 | 138002079 | missense variant | C/T | snv | 1.0E-01 | 8.4E-02 | 0.070 | 0.857 | 7 | 2008 | 2017 | |||
|
3 | 1.000 | 0.040 | 12 | 122811747 | intron variant | G/A | snv | 0.39 | 0.850 | 0.857 | 7 | 2011 | 2016 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.070 | 0.571 | 7 | 2002 | 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 | |||||
|
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 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.060 | 0.500 | 6 | 2004 | 2016 | ||||
|
1 | 1.000 | 0.040 | 14 | 54882151 | intron variant | C/A;G;T | snv | 0.730 | 1.000 | 6 | 2014 | 2018 |