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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
4 | 0.882 | 0.120 | 15 | 78578946 | intron variant | T/C | snv | 0.60 | 0.020 | 1.000 | 2 | 2006 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 122238202 | intron variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 7 | 146988457 | intron variant | T/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 15 | 34855901 | 3 prime UTR variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.080 | 8 | 20208538 | intron variant | G/A;C;T | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 7 | 77671409 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 14 | 46934481 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 4 | 15805410 | intron variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 12 | 72031625 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 20 | 157259 | upstream gene variant | T/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 3 | 67401619 | intron variant | C/A | snv | 0.74 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 8 | 57145096 | intron variant | T/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 15 | 32147097 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
10 | 0.776 | 0.160 | 17 | 30223796 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 7 | 30677427 | intron variant | G/A | snv | 0.17 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 3 | 8733391 | intron variant | G/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 15 | 32151995 | intron variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.120 | 8 | 56445416 | 3 prime UTR variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 8 | 56447926 | intron variant | T/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 20 | 3072868 | downstream gene variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 21 | 37424426 | intron variant | C/G;T | snv | 0.17 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 20 | 10273827 | intron variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2010 | 2010 |