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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.020 | 1.000 | 2 | 2015 | 2015 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.040 | 1.000 | 4 | 2006 | 2013 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.030 | 0.667 | 3 | 2011 | 2017 | |||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.020 | 1.000 | 2 | 2004 | 2017 | |||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.030 | 1.000 | 3 | 2009 | 2017 | |||
|
42 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
43 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 0.790 | 0.900 | 10 | 2008 | 2018 | |||
|
41 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
|
37 | 0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 | 0.100 | 1.000 | 29 | 2008 | 2018 | |||
|
29 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
30 | 0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.020 | 1.000 | 2 | 2012 | 2017 | |||
|
24 | 0.695 | 0.440 | 15 | 78513681 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
20 | 0.724 | 0.160 | 6 | 88150763 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
16 | 0.724 | 0.480 | 5 | 143278056 | 3 prime UTR variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
20 | 0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
13 | 0.742 | 0.240 | 15 | 78596058 | 3 prime UTR variant | G/A | snv | 0.39 | 0.050 | 1.000 | 5 | 2009 | 2014 |