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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 7 | 129028456 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 3 | 2008 | 2014 | |||||||||
|
0.807 | 0.320 | 6 | 32698749 | intergenic variant | C/T | snv | 6.4E-02 |
|
0.700 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
1.000 | 0.080 | 16 | 31353172 | upstream gene variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 2 | 2008 | 2011 | ||||||||
|
0.827 | 0.200 | 6 | 32443869 | missense variant | T/G | snv | 0.64 | 0.61 |
|
0.700 | 1.000 | 2 | 2008 | 2014 | |||||||
|
0.790 | 0.400 | 6 | 32293475 | missense variant | T/G | snv | 6.0E-02 | 6.4E-02 |
|
0.700 | 1.000 | 2 | 2008 | 2014 | |||||||
|
1.000 | 0.080 | 7 | 128944030 | intron variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
0.882 | 0.200 | 6 | 32332045 | stop gained | G/A | snv | 0.19 | 0.23 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 1 | 173250332 | intergenic variant | G/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 7 | 8147464 | intron variant | T/C | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.776 | 0.400 | 2 | 191071078 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 7 | 50273756 | downstream gene variant | G/A | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 7 | 129043493 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.200 | 6 | 31635190 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.240 | 6 | 27566749 | intergenic variant | A/G | snv | 5.4E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.200 | 6 | 31642752 | non coding transcript exon variant | A/G | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 8 | 11593078 | regulatory region variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.827 | 0.240 | 2 | 191090126 | intron variant | G/A | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.280 | 6 | 31635993 | synonymous variant | A/G | snv | 0.14 | 0.17 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 7 | 75546611 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 8 | 10931365 | intron variant | C/T | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.160 | 6 | 28744886 | intergenic variant | A/G | snv | 7.2E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.280 | 6 | 29569447 | intron variant | A/G | snv | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 6 | 28662914 | intergenic variant | G/A | snv | 5.1E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 6 | 27847861 | intron variant | A/G | snv | 5.3E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 |