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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.240 | 10 | 63341311 | intron variant | G/C | snv | 0.87 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 3 | 54387228 | intron variant | T/C | snv | 0.86 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 9 | 104782419 | 3 prime UTR variant | C/T | snv | 0.85 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 19 | 6919613 | missense variant | A/C | snv | 0.77 | 0.73 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
14 | 0.851 | 0.120 | 7 | 100638347 | intron variant | C/A | snv | 0.65 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 3 | 57104391 | missense variant | G/A | snv | 0.62 | 0.64 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 1.000 | 0.040 | 22 | 22158022 | intron variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.790 | 0.320 | 6 | 106140931 | intron variant | A/C | snv | 0.61 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 3 | 54442613 | intron variant | C/T | snv | 0.58 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
62 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.120 | 10 | 69340157 | intron variant | T/C | snv | 0.54 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
34 | 0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
6 | 0.807 | 0.200 | 3 | 9918386 | missense variant | C/T | snv | 0.46 | 0.51 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.120 | 15 | 45253280 | missense variant | C/T | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
28 | 0.662 | 0.480 | 4 | 38798089 | missense variant | T/C | snv | 0.38 | 0.44 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
6 | 0.827 | 0.240 | 6 | 106214866 | intron variant | C/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.020 | 1.000 | 2 | 2012 | 2020 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.030 | 1.000 | 3 | 2009 | 2018 | |||
|
3 | 0.925 | 0.120 | 6 | 44233216 | intron variant | A/G | snv | 0.36 | 0.030 | 0.333 | 3 | 2015 | 2017 | ||||
|
15 | 0.807 | 0.120 | 3 | 133765185 | intron variant | G/A | snv | 0.31 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 1.000 | 0.040 | 14 | 100834675 | non coding transcript exon variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.160 | 10 | 95038791 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2014 | 2014 |