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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.120 | 1 | 28812463 | missense variant | G/C;T | snv | 0.91 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.080 | 12 | 111792761 | missense variant | C/G;T | snv | 6.3E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.080 | 6 | 154039624 | missense variant | G/T | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
1 | 1.000 | 0.080 | 17 | 12714384 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
5 | 0.851 | 0.080 | 11 | 18025708 | splice region variant | G/A;T | snv | 0.39 | 0.33 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.080 | 2 | 133762000 | intergenic variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 4 | 125146073 | intergenic variant | A/T | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.080 | 1 | 28813244 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
17 | 0.724 | 0.320 | 12 | 72022455 | synonymous variant | A/T | snv | 0.57 | 0.55 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 1.000 | 0.080 | 6 | 154040884 | intron variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 12 | 71972406 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 1 | 193494720 | intron variant | G/A | snv | 0.86 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 1 | 163535374 | intergenic variant | G/A | snv | 0.10 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 4 | 46388848 | 5 prime UTR variant | C/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 1 | 167114567 | intron variant | A/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 20 | 1973693 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.851 | 0.120 | 11 | 27701142 | intron variant | C/T | snv | 5.9E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.160 | 11 | 27646808 | intron variant | G/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.790 | 0.200 | 20 | 1979293 | 3 prime UTR variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 5 | 76733086 | synonymous variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.120 | 20 | 1979580 | 3 prime UTR variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 11 | 27676827 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |