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 | 0.882 | 0.200 | 10 | 87933229 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.827 | 0.240 | 10 | 87894110 | splice donor variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
32 | 0.695 | 0.480 | 16 | 16163078 | stop gained | G/A | snv | 1.4E-03 | 1.2E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 2 | 181143073 | intron variant | T/C | snv | 0.47 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 6 | 383546 | regulatory region variant | C/T | snv | 5.4E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.280 | 6 | 408079 | 3 prime UTR variant | C/T | snv | 0.37 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 200912264 | intron variant | C/T | snv | 0.32 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.851 | 0.280 | 6 | 90216893 | intron variant | C/A | snv | 0.33 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 10 | 117854099 | intergenic variant | T/C | snv | 0.25 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.882 | 0.200 | 1 | 24977085 | intergenic variant | A/G | snv | 0.56 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
32 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 0.800 | 1.000 | 1 | 2010 | 2010 | |||
|
13 | 0.763 | 0.280 | 11 | 128511079 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.882 | 0.200 | 3 | 119399949 | intron variant | T/G | snv | 0.30 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 14 | 68792785 | intron variant | T/C | snv | 0.25 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 1 | 172711891 | intergenic variant | T/C | snv | 0.23 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 172895512 | intron variant | T/A | snv | 0.21 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 7986612 | upstream gene variant | C/A | snv | 0.12 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 1 | 202500595 | intron variant | T/C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.882 | 0.200 | 16 | 11310036 | intron variant | C/T | snv | 0.13 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.882 | 0.200 | 2 | 181131318 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 3 | 46240253 | intron variant | C/T | snv | 0.25 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.882 | 0.200 | 3 | 46193709 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.882 | 0.200 | 3 | 32973977 | regulatory region variant | G/C;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.120 | 3 | 159905770 | intron variant | C/T | snv | 0.32 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 1 | 192572342 | intron variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 |