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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
31 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.820 | 1.000 | 4 | 1999 | 2019 | ||||
|
28 | 0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 | 0.800 | 1.000 | 12 | 2009 | 2019 | |||
|
45 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.800 | 1.000 | 2 | 1999 | 2001 | |||||
|
25 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 1999 | 2001 | ||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.800 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 4 | 1732512 | intron variant | T/C | snv | 0.76 | 0.770 | 0.889 | 9 | 2010 | 2017 | ||||
|
9 | 0.776 | 0.240 | 8 | 127705823 | intron variant | G/A;T | snv | 0.760 | 1.000 | 9 | 2008 | 2015 | |||||
|
4 | 0.851 | 0.200 | 3 | 189928144 | intergenic variant | T/C | snv | 0.24 | 0.740 | 1.000 | 8 | 2008 | 2018 | ||||
|
5 | 0.882 | 0.120 | 2 | 233656637 | intron variant | A/C;T | snv | 0.730 | 0.750 | 4 | 2010 | 2015 | |||||
|
3 | 0.882 | 0.120 | 18 | 45729946 | 5 prime UTR variant | C/A;T | snv | 0.730 | 1.000 | 3 | 2011 | 2014 | |||||
|
9 | 0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 | 0.720 | 1.000 | 4 | 2010 | 2016 | ||||
|
3 | 0.882 | 0.120 | 22 | 38936618 | regulatory region variant | C/T | snv | 0.55 | 0.720 | 1.000 | 3 | 2010 | 2016 | ||||
|
32 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 0.720 | 1.000 | 3 | 2014 | 2019 | |||
|
3 | 0.882 | 0.120 | 19 | 29805946 | regulatory region variant | T/C | snv | 0.24 | 0.720 | 1.000 | 3 | 2010 | 2014 | ||||
|
3 | 0.882 | 0.120 | 18 | 45737317 | intron variant | T/C | snv | 0.61 | 0.710 | 1.000 | 3 | 2011 | 2014 | ||||
|
42 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.710 | 0.667 | 3 | 2010 | 2014 | ||||
|
3 | 0.925 | 0.120 | 20 | 10981287 | intron variant | C/A | snv | 0.19 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.763 | 0.280 | 4 | 1804362 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 1999 | 2001 | ||||
|
4 | 0.882 | 0.200 | 8 | 127707639 | intron variant | A/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 12 | 38045401 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 6 | 20766466 | intron variant | C/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 20 | 11010490 | intron variant | T/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 8 | 81074718 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 20 | 11007451 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 18 | 45737001 | intron variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2011 | 2011 |