| 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 | 2 | 178431544 | 3 prime UTR variant | T/C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 2 | 191109709 | intron variant | T/C | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 2 | 230250739 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 3 | 121824730 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2013 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 122051692 | upstream gene variant | G/T | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
1.000 | 0.080 | 3 | 122050675 | upstream gene variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2011 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 121941817 | 3 prime UTR variant | A/C;G | snv |
|
0.800 | 1.000 | 2 | 2011 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 28029953 | intron variant | A/C | snv | 0.38 |
|
0.800 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
1.000 | 0.080 | 3 | 102029794 | regulatory region variant | A/G | snv | 0.70 |
|
0.800 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.925 | 0.160 | 3 | 105867870 | intron variant | T/A;C | snv |
|
0.830 | 0.750 | 2 | 2010 | 2017 | |||||||||
|
1.000 | 0.080 | 3 | 159973324 | intron variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 3 | 27747289 | intergenic variant | C/T | snv | 0.39 |
|
0.810 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
0.882 | 0.200 | 3 | 119503609 | stop lost | G/C | snv | 0.18 | 0.18 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 3 | 18744093 | intron variant | G/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 3 | 102036894 | TF binding site variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 28037594 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 3 | 140380851 | intron variant | C/T | snv | 4.4E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 3 | 28037080 | intron variant | G/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.160 | 3 | 119501087 | intron variant | G/A | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 3 | 27715527 | downstream gene variant | G/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 3 | 28039951 | intron variant | A/G | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 3 | 122074340 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 3 | 32971991 | regulatory region variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 3 | 160016881 | intron variant | A/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |