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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 6 | 160731092 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 2 | 157781929 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.923 | 13 | 1999 | 2019 | |||
|
1 | 1.000 | 0.040 | 3 | 59495862 | intron variant | A/G | snv | 9.6E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 8 | 58498449 | missense variant | A/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 4 | 127811771 | intron variant | A/G | snv | 0.67 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
25 | 0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
15 | 0.724 | 0.360 | 11 | 65498698 | non coding transcript exon variant | A/G | snv | 5.9E-02 | 3.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.040 | 12 | 101729109 | splice region variant | A/G | snv | 5.6E-05 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 160739148 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 19 | 55041651 | 3 prime UTR variant | C/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.882 | 0.160 | 6 | 160706454 | missense variant | C/A;G | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
7 | 0.807 | 0.160 | 11 | 2583535 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.040 | 11 | 72587236 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.160 | 3 | 181593779 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.050 | 1.000 | 5 | 2000 | 2016 | ||||
|
1 | 1.000 | 0.040 | 9 | 19022472 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.160 | 7 | 101128439 | missense variant | C/T | snv | 7.0E-06 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 4 | 148243753 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
43 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
35 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
18 | 0.708 | 0.400 | 15 | 51210789 | 3 prime UTR variant | G/A | snv | 0.45 | 0.43 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 3 | 186677347 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 |