| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.240 | 4 | 154604124 | downstream gene variant | G/A | snv | 0.26 |
|
0.860 | 0.900 | 1 | 2011 | 2019 | ||||||||
|
1 | 169522317 | intron variant | G/A | snv | 0.95 |
|
0.700 | 1.000 | 3 | 2009 | 2012 | ||||||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
0.800 | 1.000 | 3 | 2009 | 2012 | |||||||||
|
1.000 | 0.080 | 1 | 169511985 | 3 prime UTR variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2011 | 2013 | |||||||||
|
0.851 | 0.240 | 9 | 133261662 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 3 | 2011 | 2013 | |||||||||
|
1 | 169544768 | intron variant | A/G | snv | 0.92 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
1 | 169506814 | intergenic variant | A/G | snv | 0.93 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
1 | 169459706 | intron variant | C/T | snv | 0.93 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
1 | 169454860 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||||
|
1 | 169327626 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||||
|
1 | 169165889 | intron variant | A/C | snv | 5.5E-02 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
1 | 169498416 | non coding transcript exon variant | G/A | snv | 0.98 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
1 | 169521154 | intron variant | G/C | snv | 0.95 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
1 | 169528818 | intron variant | A/G | snv | 0.95 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
4 | 186264231 | upstream gene variant | A/T | snv | 0.36 |
|
0.810 | 1.000 | 2 | 2011 | 2014 | ||||||||||
|
4 | 186264957 | upstream gene variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
4 | 186266940 | intron variant | T/G | snv | 0.30 |
|
0.800 | 1.000 | 2 | 2011 | 2013 | ||||||||||
|
0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.882 | 0.120 | 9 | 133266790 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
0.851 | 0.120 | 9 | 133274084 | intron variant | C/T | snv |
|
0.800 | 1.000 | 2 | 2011 | 2016 | |||||||||
|
9 | 133267960 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||||
|
0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 169529596 | intron variant | T/A;C | snv | 0.94 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 |
|
0.900 | 1.000 | 2 | 1997 | 2019 | ||||||||
|
9 | 133268030 | intron variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 |