| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv |
|
0.810 | 1.000 | 1 | 2009 | 2017 | |||||||||
|
1.000 | 0.080 | 1 | 3674884 | intron variant | G/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 |
|
0.840 | 1.000 | 1 | 2008 | 2012 | ||||||||
|
1.000 | 0.080 | 1 | 65266559 | intron variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 1 | 224330652 | upstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 |
|
0.810 | 1.000 | 1 | 2009 | 2012 | ||||||||
|
1.000 | 0.080 | 1 | 151399662 | synonymous variant | G/A;C | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.080 | 2 | 202881162 | intron variant | T/C | snv | 8.9E-02 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 2 | 127103254 | intron variant | C/G | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 3 | 13358775 | intron variant | G/A | snv | 3.4E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 3 | 126103160 | upstream gene variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 3 | 52795617 | synonymous variant | G/A | snv | 4.5E-02 | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.080 | 3 | 17082892 | intron variant | A/G | snv | 0.56 |
|
0.800 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 3 | 170064416 | intron variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 4 | 7484048 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 4 | 3531339 | intron variant | C/T | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 4 | 3316686 | synonymous variant | A/G | snv | 0.64 | 0.70 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 5 | 4029676 | downstream gene variant | C/T | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 5 | 172933031 | non coding transcript exon variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 5 | 175797902 | intron variant | C/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 5 | 150536114 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 5 | 71631859 | intron variant | C/A;G;T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.160 | 6 | 12927312 | intron variant | C/G | snv | 0.27 |
|
0.820 | 1.000 | 1 | 2009 | 2015 | ||||||||
|
0.827 | 0.160 | 6 | 26458037 | 5 prime UTR variant | T/C | snv | 0.70 |
|
0.780 | 1.000 | 1 | 2011 | 2014 | ||||||||
|
1.000 | 0.080 | 6 | 43200379 | intron variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |