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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 4 | 102778621 | intergenic variant | T/C | snv | 0.99 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.120 | 9 | 137018032 | missense variant | A/C;G | snv | 0.97 | 0.96 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
16 | 0.851 | 0.120 | 2 | 146120964 | regulatory region variant | T/C | snv | 0.94 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.851 | 0.120 | 16 | 72963084 | intron variant | C/T | snv | 0.94 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 6 | 27022412 | intron variant | T/C | snv | 0.94 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.925 | 0.040 | 11 | 116741017 | intergenic variant | C/G | snv | 0.93 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 6 | 30243030 | intron variant | T/G | snv | 0.92 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.200 | 6 | 31164308 | intron variant | T/C | snv | 0.92 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 6 | 30314555 | intron variant | T/C | snv | 0.92 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 24596250 | missense variant | T/A;G | snv | 4.0E-06; 0.92 | 0.91 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.030 | 1.000 | 3 | 2010 | 2016 | ||||
|
18 | 0.732 | 0.360 | 1 | 55063514 | missense variant | G/A | snv | 0.95 | 0.90 | 0.040 | 0.750 | 4 | 2007 | 2015 | |||
|
1 | 1.000 | 0.040 | 19 | 29573489 | intergenic variant | A/G | snv | 0.89 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 6 | 28606638 | intron variant | T/C | snv | 0.89 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.925 | 0.040 | 8 | 9327181 | intron variant | T/C | snv | 0.88 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.040 | 9 | 15289580 | intron variant | C/T | snv | 0.87 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 220024283 | missense variant | G/T | snv | 0.84 | 0.86 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.925 | 0.080 | 3 | 186836503 | intergenic variant | T/G | snv | 0.86 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.040 | 7 | 151011001 | intron variant | A/G | snv | 0.84 | 0.85 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
8 | 0.807 | 0.240 | 19 | 10631494 | missense variant | A/G | snv | 0.80 | 0.83 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
8 | 0.827 | 0.280 | 1 | 55058564 | missense variant | G/A | snv | 0.86 | 0.83 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
16 | 0.752 | 0.400 | 11 | 27704439 | intron variant | T/A | snv | 0.83 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.830 | 1.000 | 7 | 2011 | 2018 | ||||
|
4 | 0.882 | 0.080 | 22 | 40635351 | intron variant | A/- | delins | 0.82 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
6 | 0.807 | 0.160 | 7 | 17328796 | intron variant | T/C | snv | 0.81 | 0.010 | 1.000 | 1 | 2018 | 2018 |