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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.030 | 1.000 | 3 | 2005 | 2008 | |||
|
15 | 0.708 | 0.400 | 17 | 5615686 | intron variant | A/G | snv | 0.41 | 0.030 | 1.000 | 3 | 2007 | 2013 | ||||
|
1 | 1.000 | 0.040 | 2 | 203960623 | 3 prime UTR variant | C/T | snv | 8.2E-02 | 0.020 | 0.500 | 2 | 2008 | 2009 | ||||
|
3 | 0.882 | 0.120 | 17 | 5517008 | intron variant | C/T | snv | 0.82 | 0.020 | 1.000 | 2 | 2007 | 2013 | ||||
|
1 | 1.000 | 0.040 | 17 | 5808630 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.040 | 6 | 31869289 | intron variant | C/T | snv | 2.9E-02 | 4.5E-02 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
14 | 0.724 | 0.360 | 17 | 5582047 | missense variant | A/T | snv | 0.37 | 0.33 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.040 | 2 | 203836831 | intergenic variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.040 | 6 | 168540944 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.040 | 3 | 71523984 | intron variant | T/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
50 | 0.590 | 0.760 | 12 | 68158742 | intron variant | T/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.080 | 12 | 68158711 | intron variant | CGAG/- | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.160 | 6 | 167092303 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.040 | 6 | 32377506 | intron variant | C/A;T | snv | 4.2E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.160 | 17 | 5651667 | intergenic variant | T/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.851 | 0.040 | 6 | 31291060 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2012 | 2012 |