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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.040 | 10 | 129691518 | intron variant | A/C;G | snv | 0.66 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.763 | 0.240 | 1 | 204519150 | intron variant | G/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 4 | 54716231 | intron variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 17 | 77598082 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 9 | 115141569 | intron variant | T/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.080 | 4 | 54675713 | intron variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.040 | 12 | 111774029 | intron variant | T/C | snv | 0.52 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.827 | 0.160 | 14 | 104766758 | intron variant | C/A;T | snv | 0.40 | 0.33 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 20 | 33675156 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 1 | 23525295 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 1 | 23511068 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.120 | 19 | 47228572 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
13 | 0.732 | 0.240 | 10 | 133526101 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.040 | 1 | 247702471 | intron variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
42 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.160 | 13 | 102870617 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.851 | 0.080 | 2 | 233285017 | intron variant | A/T | snv | 5.1E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 12 | 64609189 | intron variant | T/C;G | snv | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 7 | 55192070 | intron variant | A/G | snv | 0.66 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 22 | 21850504 | intron variant | G/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 7 | 55185015 | intron variant | C/T | snv | 0.76 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 17 | 69923642 | intergenic variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 14 | 83448259 | intergenic variant | G/C | snv | 4.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 10 | 93993019 | regulatory region variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 |