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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.040 | 18 | 37565159 | intron variant | C/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 1 | 47224766 | intron variant | G/T | snv | 0.52 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.120 | 12 | 84170289 | intron variant | G/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
20 | 0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 146424952 | intron variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
40 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 0.050 | 1.000 | 5 | 2009 | 2017 | ||||
|
13 | 0.763 | 0.200 | 22 | 38287631 | downstream gene variant | G/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.080 | 2 | 207527254 | intron variant | A/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.080 | 3 | 61096480 | intron variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.040 | 1 | 106295917 | intergenic variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.120 | 5 | 1394962 | intron variant | C/T | snv | 0.45 | 0.020 | 1.000 | 2 | 2008 | 2010 | ||||
|
4 | 0.851 | 0.120 | 17 | 76467306 | intron variant | C/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.060 | 0.833 | 6 | 2007 | 2017 | |||
|
3 | 0.882 | 0.040 | 15 | 66404397 | intron variant | A/C;G | snv | 0.44 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.100 | 1.000 | 11 | 2005 | 2019 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.827 | 0.160 | 2 | 203869764 | intron variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
41 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 0.050 | 1.000 | 5 | 2010 | 2019 | ||||
|
3 | 0.925 | 0.040 | 6 | 144709148 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 1 | 110479338 | intron variant | C/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.100 | 1.000 | 11 | 2000 | 2019 | |||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 0.040 | 2 | 207564627 | intron variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.790 | 0.120 | 6 | 77463665 | 5 prime UTR variant | A/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2009 | 2009 |