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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 14 | 46934481 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 0.040 | 15 | 97975562 | downstream gene variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 1.000 | 0.040 | 6 | 124370091 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.040 | 13 | 93358916 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.060 | 0.667 | 6 | 2005 | 2016 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.060 | 0.667 | 6 | 2005 | 2016 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.030 | 1.000 | 3 | 2005 | 2017 | |||
|
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 | 6 | 154039596 | missense variant | G/A | snv | 2.0E-05 | 1.4E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 7 | 77671409 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
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 | |||||
|
9 | 0.790 | 0.320 | 12 | 121162450 | missense variant | T/A;C;G | snv | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 |