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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.807 | 0.080 | 15 | 78622903 | upstream gene variant | C/A;T | snv | 0.740 | 1.000 | 7 | 2008 | 2014 | |||||
|
5 | 0.827 | 0.080 | 3 | 189638472 | intron variant | T/C | snv | 0.45 | 0.750 | 1.000 | 6 | 2011 | 2015 | ||||
|
4 | 0.851 | 0.080 | 19 | 45406676 | 5 prime UTR variant | G/A;C;T | snv | 0.22; 6.7E-06 | 0.060 | 1.000 | 6 | 2012 | 2018 | ||||
|
9 | 0.807 | 0.080 | 3 | 189665394 | intron variant | C/T | snv | 0.38 | 0.040 | 1.000 | 4 | 2012 | 2015 | ||||
|
5 | 0.925 | 0.080 | 15 | 78691217 | intron variant | C/A;G;T | snv | 0.28 | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||
|
4 | 0.925 | 0.080 | 15 | 78432127 | intergenic variant | C/T | snv | 0.22 | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||
|
4 | 1.000 | 0.080 | 15 | 78664464 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||
|
8 | 0.827 | 0.080 | 15 | 78534606 | 3 prime UTR variant | T/C | snv | 0.26 | 0.710 | 1.000 | 4 | 2008 | 2012 | ||||
|
4 | 1.000 | 0.080 | 15 | 78686022 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||
|
4 | 0.925 | 0.080 | 15 | 78668187 | intron variant | A/C | snv | 0.35 | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||
|
8 | 0.827 | 0.080 | 15 | 78599285 | intron variant | G/A;C;T | snv | 0.710 | 1.000 | 3 | 2009 | 2012 | |||||
|
8 | 0.827 | 0.080 | 7 | 55191776 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2008 | 2014 | |||
|
6 | 0.851 | 0.080 | 13 | 91792975 | intron variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2010 | 2015 | |||||
|
4 | 0.925 | 0.080 | 15 | 78420357 | regulatory region variant | A/C;T | snv | 0.700 | 1.000 | 3 | 2008 | 2012 | |||||
|
7 | 0.851 | 0.080 | 15 | 78533838 | 3 prime UTR variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2009 | 2015 | |||||
|
7 | 0.851 | 0.080 | 15 | 78604205 | intron variant | G/A | snv | 0.72 | 0.710 | 1.000 | 3 | 2009 | 2016 | ||||
|
15 | 0.776 | 0.080 | 7 | 55181398 | missense variant | T/A | snv | 0.020 | 1.000 | 2 | 2017 | 2019 | |||||
|
8 | 0.827 | 0.080 | 15 | 78500185 | 3 prime UTR variant | T/C | snv | 0.39 | 0.710 | 1.000 | 2 | 2009 | 2017 | ||||
|
4 | 0.851 | 0.080 | 15 | 90085305 | synonymous variant | G/A;C | snv | 3.5E-02; 6.4E-06 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
3 | 0.925 | 0.080 | 15 | 78637030 | intron variant | G/A | snv | 0.63 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
4 | 0.882 | 0.080 | 18 | 50273809 | missense variant | G/A;C | snv | 3.6E-05; 0.19 | 0.020 | 1.000 | 2 | 2005 | 2008 | ||||
|
3 | 0.925 | 0.080 | 15 | 78654291 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 2 | 2008 | 2012 | ||||
|
3 | 0.882 | 0.080 | 2 | 174396420 | intron variant | T/C | snv | 0.26 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
3 | 0.925 | 0.080 | 15 | 78638168 | intron variant | A/G;T | snv | 0.62 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
3 | 0.882 | 0.080 | 19 | 48128151 | intron variant | C/T | snv | 0.29 | 0.020 | 0.500 | 2 | 2008 | 2015 |