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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.080 | 12 | 2512979 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.807 | 0.160 | 17 | 76470935 | 3 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
16 | 0.752 | 0.280 | 12 | 121184393 | missense variant | A/G | snv | 0.13 | 0.12 | 0.040 | 0.500 | 4 | 2009 | 2011 | |||
|
4 | 0.851 | 0.040 | 1 | 147552120 | intron variant | C/T | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
12 | 0.776 | 0.160 | 10 | 60420054 | intron variant | C/T | snv | 7.5E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 7 | 102205168 | missense variant | C/T | snv | 8.6E-04 | 3.0E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.040 | 1 | 147579693 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
9 | 0.790 | 0.320 | 12 | 121162450 | missense variant | T/A;C;G | snv | 0.51 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.160 | 2 | 203869764 | intron variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 10 | 49616573 | missense variant | G/A | snv | 0.21 | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.851 | 0.040 | 1 | 147581540 | intron variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.040 | 1 | 147605490 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
11 | 0.763 | 0.240 | 22 | 19942598 | intron variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.200 | 12 | 121162449 | missense variant | GT/AC | mnv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.040 | 1 | 147625465 | 3 prime UTR variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
5 | 0.851 | 0.080 | 22 | 19966309 | intron variant | A/G | snv | 0.88 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.040 | 6 | 115851928 | intergenic variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 146424952 | intron variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.080 | 13 | 49719920 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.040 | 1 | 11800214 | missense variant | G/A;C | snv | 2.8E-05; 4.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 |