| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 |
|
0.700 | 1.000 | 2 | 2012 | 2013 | |||||||
|
0.732 | 0.160 | 6 | 160540105 | missense variant | T/C | snv | 5.6E-02 | 3.1E-02 |
|
0.820 | 1.000 | 2 | 2011 | 2013 | |||||||
|
0.827 | 0.080 | 13 | 110308365 | intron variant | A/G | snv | 0.42 |
|
0.810 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.851 | 0.160 | 9 | 133278431 | upstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2011 | 2011 | |||||||||
|
0.790 | 0.120 | 19 | 11091630 | intron variant | G/T | snv | 0.12 |
|
0.720 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.851 | 0.080 | 2 | 202881162 | intron variant | T/C | snv | 8.9E-02 |
|
0.800 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
0.807 | 0.200 | 6 | 150931849 | intron variant | G/A | snv | 0.35 |
|
0.830 | 1.000 | 2 | 2007 | 2014 | ||||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.830 | 1.000 | 2 | 2011 | 2018 | ||||||||
|
0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv |
|
0.800 | 1.000 | 2 | 2009 | 2014 | |||||||||
|
0.851 | 0.080 | 21 | 34226827 | intron variant | C/T | snv | 0.15 |
|
0.810 | 1.000 | 2 | 2011 | 2017 | ||||||||
|
0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 9 | 22121350 | intron variant | A/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 1 | 146018957 | intron variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2011 | 2016 | ||||||||
|
1.000 | 0.040 | 12 | 128194523 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 |
|
0.830 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 6 | 28087717 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 6 | 25454787 | intron variant | C/T | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 8 | 19990179 | intergenic variant | C/A | snv | 8.4E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 9 | 22114496 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.120 | 9 | 22123767 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.160 | 9 | 22088261 | intron variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 |
|
0.900 | 1.000 | 1 | 2008 | 2016 |