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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.080 | 15 | 60777789 | intron variant | C/T | snv | 0.23 | 0.820 | 1.000 | 7 | 2010 | 2019 | ||||
|
3 | 0.925 | 0.080 | 17 | 39908152 | intron variant | C/T | snv | 0.40 | 0.35 | 0.820 | 1.000 | 5 | 2011 | 2018 | |||
|
4 | 0.882 | 0.080 | 17 | 39900944 | downstream gene variant | G/A;T | snv | 0.740 | 1.000 | 5 | 2008 | 2018 | |||||
|
3 | 0.925 | 0.080 | 17 | 39766006 | synonymous variant | G/A | snv | 0.41 | 0.36 | 0.810 | 1.000 | 5 | 2010 | 2019 | |||
|
4 | 0.882 | 0.080 | 9 | 6209697 | intergenic variant | A/G;T | snv | 0.810 | 1.000 | 5 | 2010 | 2019 | |||||
|
2 | 1.000 | 0.080 | 2 | 102337157 | 5 prime UTR variant | G/A;T | snv | 0.820 | 1.000 | 4 | 2011 | 2019 | |||||
|
3 | 0.925 | 0.080 | 17 | 39972395 | intron variant | C/T | snv | 0.42 | 0.820 | 1.000 | 4 | 2010 | 2016 | ||||
|
2 | 0.925 | 0.080 | 17 | 39936460 | intron variant | T/C | snv | 0.45 | 0.710 | 1.000 | 4 | 2010 | 2012 | ||||
|
2 | 0.925 | 0.080 | 18 | 63775385 | 5 prime UTR variant | A/G | snv | 3.0E-02 | 0.700 | 1.000 | 3 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 9 | 6255967 | splice acceptor variant | G/C | snv | 2.2E-03 | 2.0E-03 | 0.720 | 1.000 | 3 | 2017 | 2019 | |||
|
1 | 1.000 | 0.080 | 5 | 60073967 | intron variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2009 | 2011 | |||||
|
4 | 1.000 | 0.080 | 5 | 132387596 | intron variant | T/C | snv | 0.46 | 0.800 | 1.000 | 3 | 2010 | 2012 | ||||
|
1 | 1.000 | 0.080 | 5 | 132565533 | intron variant | A/G | snv | 0.33 | 0.820 | 1.000 | 3 | 2010 | 2016 | ||||
|
3 | 0.882 | 0.080 | 20 | 3669587 | missense variant | A/G | snv | 0.13 | 0.14 | 0.030 | 1.000 | 3 | 2006 | 2019 | |||
|
4 | 0.882 | 0.080 | 12 | 57115319 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 3 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 2 | 102369762 | intron variant | G/A;T | snv | 0.810 | 1.000 | 3 | 2010 | 2012 | |||||
|
2 | 0.925 | 0.080 | 17 | 39938921 | intron variant | G/A;C | snv | 0.810 | 1.000 | 3 | 2011 | 2015 | |||||
|
4 | 0.882 | 0.080 | 2 | 102319699 | intron variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||
|
1 | 1.000 | 0.080 | 15 | 67154447 | intron variant | G/A;T | snv | 0.810 | 1.000 | 3 | 2010 | 2012 | |||||
|
5 | 0.882 | 0.080 | 11 | 76582682 | intergenic variant | G/T | snv | 0.44 | 0.700 | 1.000 | 3 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 3 | 123739046 | missense variant | G/A | snv | 0.95 | 0.88 | 0.030 | 1.000 | 3 | 2007 | 2015 | |||
|
2 | 0.925 | 0.080 | 2 | 227805721 | upstream gene variant | T/C | snv | 0.62 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 2 | 102351896 | missense variant | C/T | snv | 0.34 | 0.46 | 0.710 | 1.000 | 2 | 2010 | 2020 | |||
|
1 | 1.000 | 0.080 | 13 | 49528674 | 3 prime UTR variant | G/A | snv | 0.50 | 0.48 | 0.020 | 1.000 | 2 | 2010 | 2011 | |||
|
5 | 0.882 | 0.080 | 19 | 33235672 | TF binding site variant | C/A | snv | 5.0E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 |