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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv | 0.020 | 1.000 | 2 | 2010 | 2012 | |||||
|
1 | 1.000 | 1 | 109923705 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
41 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2002 | 2014 | ||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.925 | 2 | 8037334 | intron variant | G/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
16 | 0.732 | 0.320 | 2 | 136115226 | synonymous variant | C/T | snv | 4.0E-06 | 4.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.925 | 2 | 109433263 | intron variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.925 | 2 | 70875156 | intergenic variant | A/T | snv | 0.65 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.925 | 2 | 40840846 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
16 | 0.732 | 0.320 | 2 | 136115082 | synonymous variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
16 | 0.732 | 0.320 | 2 | 136115340 | synonymous variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.070 | 0.857 | 7 | 2002 | 2015 | |||
|
8 | 0.925 | 3 | 46410189 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
7 | 0.807 | 0.200 | 3 | 46459778 | missense variant | C/T | snv | 0.34 | 0.53 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
11 | 0.763 | 0.240 | 3 | 46459723 | missense variant | T/C | snv | 0.41 | 0.51 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.925 | 3 | 158893105 | intergenic variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 3 | 46373902 | stop gained | C/A;G;T | snv | 1.6E-05; 8.2E-06; 4.1E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.925 | 3 | 115559835 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
5 | 0.925 | 3 | 1383484 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 3 | 46373218 | missense variant | G/A | snv | 5.2E-04 | 1.5E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 3 | 46373708 | missense variant | G/A;T | snv | 3.2E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 3 | 46373290 | missense variant | G/A | snv | 1.8E-04 | 4.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.882 | 0.080 | 3 | 8764738 | intron variant | G/A | snv | 9.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 5 | 157086333 | 3 prime UTR variant | G/A | snv | 0.79 | 0.010 | 1.000 | 1 | 2014 | 2014 |