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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.790 | 0.240 | 9 | 114804733 | intron variant | C/T | snv | 0.13 | 0.830 | 1.000 | 1 | 2012 | 2019 | ||||
|
1 | 0.925 | 0.080 | 11 | 111404408 | intron variant | G/A | snv | 0.56 | 0.810 | 1.000 | 1 | 2012 | 2017 | ||||
|
8 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.810 | 1.000 | 1 | 2012 | 2014 | ||||
|
1 | 0.925 | 0.080 | 2 | 190673836 | intron variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 0.851 | 0.200 | 12 | 111621753 | intergenic variant | C/T | snv | 0.30 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 0.851 | 0.200 | 16 | 85985665 | upstream gene variant | G/A | snv | 0.15 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 0.827 | 0.160 | 16 | 85985910 | upstream gene variant | G/A;C;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 0.925 | 0.080 | 1 | 197812068 | regulatory region variant | C/T | snv | 0.17 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.827 | 0.200 | 7 | 128977412 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 16 | 11083967 | intron variant | C/T | snv | 0.39 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 0.851 | 0.200 | 3 | 16913767 | intron variant | G/A | snv | 0.35 | 0.800 | 1.000 | 1 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.080 | 16 | 11265823 | intron variant | C/T | snv | 0.36 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 45929235 | intron variant | T/C | snv | 0.14 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 22 | 39351045 | intron variant | G/A | snv | 0.21 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 14 | 103100448 | missense variant | C/T | snv | 0.22 | 0.20 | 0.800 | 1.000 | 1 | 2011 | 2015 | |||
|
3 | 0.732 | 0.360 | 19 | 10364976 | missense variant | C/A | snv | 0.27 | 0.23 | 0.800 | 1.000 | 1 | 2012 | 2015 | |||
|
1 | 1.000 | 0.080 | 3 | 160018698 | intron variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.882 | 0.200 | 6 | 32353777 | intron variant | G/T | snv | 4.6E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 1 | 197753110 | intron variant | C/T | snv | 0.23 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.827 | 0.320 | 6 | 32687441 | regulatory region variant | T/A;C;G | snv | 0.25 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.776 | 0.360 | 6 | 32421871 | intergenic variant | A/G | snv | 0.24 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 7 | 129043485 | intron variant | G/A | snv | 9.0E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 3 | 119431242 | 3 prime UTR variant | A/G | snv | 0.15 | 0.800 | 1.000 | 1 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 190679236 | intron variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2011 | 2015 |