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 | 0.925 | 0.080 | 2 | 190673836 | intron variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
12 | 0.851 | 0.200 | 12 | 111621753 | intergenic variant | C/T | snv | 0.30 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.200 | 16 | 85985665 | upstream gene variant | G/A | snv | 0.15 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.160 | 16 | 85985910 | upstream gene variant | G/A;C;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.925 | 0.080 | 1 | 197812068 | regulatory region variant | C/T | snv | 0.17 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 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 | 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 | ||||
|
1 | 1.000 | 0.080 | 3 | 160018698 | intron variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 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 | ||||
|
5 | 0.827 | 0.320 | 6 | 32687441 | regulatory region variant | T/A;C;G | snv | 0.25 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.776 | 0.360 | 6 | 32421871 | intergenic variant | A/G | snv | 0.24 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
25 | 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 | ||||
|
6 | 0.827 | 0.120 | 7 | 128939148 | intron variant | T/C | snv | 0.41 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 3 | 160623108 | intergenic variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.080 | 11 | 64362250 | intron variant | G/A | snv | 0.29 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 5 | 35885880 | intergenic variant | T/C | snv | 0.21 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 5 | 35852209 | upstream gene variant | G/A | snv | 0.25 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.763 | 0.320 | 11 | 64329761 | upstream gene variant | A/G | snv | 0.28 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.807 | 0.120 | 7 | 37334906 | intron variant | G/A | snv | 0.14 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.080 | 17 | 39387196 | intron variant | T/A;G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 |