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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.752 | 0.320 | 9 | 114806486 | upstream gene variant | A/G | snv | 0.74 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.732 | 0.320 | 9 | 114806766 | upstream gene variant | T/C | snv | 0.74 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 16 | 24887651 | intron variant | C/A | snv | 0.74 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.160 | 4 | 54145602 | intron variant | T/C | snv | 0.73 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.020 | 1.000 | 2 | 2017 | 2017 | |||
|
11 | 0.763 | 0.240 | 4 | 105207603 | intron variant | G/A | snv | 0.70 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.200 | 7 | 50264865 | upstream gene variant | C/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.790 | 0.320 | 6 | 32696681 | intergenic variant | T/C | snv | 0.64 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.160 | 11 | 619789 | missense variant | T/G | snv | 0.63 | 0.59 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
3 | 0.925 | 0.200 | 1 | 17340013 | intron variant | C/T | snv | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
18 | 0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
6 | 0.807 | 0.320 | 1 | 22638465 | intron variant | G/A | snv | 0.54 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
26 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.160 | 22 | 36312293 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.790 | 0.240 | 1 | 22638945 | synonymous variant | A/G | snv | 0.49 | 0.51 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 1.000 | 0.160 | 18 | 79404243 | intron variant | G/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
13 | 0.732 | 0.400 | 5 | 151077924 | intron variant | G/C | snv | 0.44 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
33 | 0.645 | 0.560 | 1 | 196673103 | missense variant | G/A | snv | 0.32 | 0.40 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.160 | 2 | 160030364 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.160 | 6 | 19823007 | intron variant | T/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.160 | 8 | 121263666 | regulatory region variant | G/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.160 | 2 | 160060986 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.160 | 10 | 12455748 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 |