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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 20 | 34000289 | intron variant | T/C;G | snv |
|
0.710 | < 0.001 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.200 | 6 | 32706872 | non coding transcript exon variant | A/G | snv | 0.58 |
|
0.710 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 1 | 156476450 | intron variant | C/A | snv | 0.62 | 0.54 |
|
0.820 | 0.500 | 2 | 2012 | 2017 | |||||||
|
0.851 | 0.200 | 1 | 94087882 | intron variant | C/T | snv | 0.53 |
|
0.710 | 0.500 | 2 | 2010 | 2012 | ||||||||
|
0.851 | 0.240 | 5 | 159387525 | intron variant | A/C | snv | 0.78 |
|
0.710 | 0.500 | 1 | 2011 | 2012 | ||||||||
|
0.827 | 0.240 | 9 | 4292083 | intron variant | G/A | snv | 0.45 |
|
0.710 | 0.500 | 1 | 2011 | 2017 | ||||||||
|
0.851 | 0.040 | 12 | 24031610 | intron variant | G/C | snv | 0.43 |
|
0.720 | 0.500 | 1 | 2011 | 2015 | ||||||||
|
0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 |
|
0.810 | 0.500 | 1 | 2009 | 2014 | ||||||||
|
0.925 | 0.080 | 6 | 1318643 | downstream gene variant | C/T | snv | 0.58 |
|
0.710 | 0.500 | 1 | 2013 | 2015 | ||||||||
|
0.925 | 0.160 | 3 | 119431989 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.710 | 0.500 | 1 | 2011 | 2012 | |||||||
|
0.925 | 0.080 | 19 | 41479679 | non coding transcript exon variant | G/A | snv | 0.42 |
|
0.720 | 0.500 | 1 | 2013 | 2018 | ||||||||
|
0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 |
|
0.840 | 0.500 | 1 | 2011 | 2019 | |||||||
|
1.000 | 0.040 | 4 | 15724143 | intron variant | T/C | snv | 0.13 |
|
0.730 | 0.500 | 1 | 2012 | 2019 | ||||||||
|
0.851 | 0.040 | 6 | 31869289 | intron variant | C/T | snv | 2.9E-02 | 4.5E-02 |
|
0.810 | 0.500 | 1 | 2010 | 2013 | |||||||
|
0.882 | 0.040 | 1 | 106793679 | regulatory region variant | G/A;T | snv |
|
0.720 | 0.500 | 1 | 2011 | 2015 | |||||||||
|
0.925 | 0.200 | 1 | 113877706 | 3 prime UTR variant | C/A;T | snv |
|
0.710 | 0.500 | 1 | 2009 | 2010 | |||||||||
|
1.000 | 0.040 | 4 | 15727911 | intron variant | G/A | snv | 8.1E-02 |
|
0.710 | 0.500 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.040 | 6 | 168540944 | intron variant | G/A;C | snv |
|
0.810 | 0.500 | 1 | 2010 | 2011 | |||||||||
|
1.000 | 0.080 | 6 | 135435884 | intron variant | A/G | snv | 0.76 |
|
0.710 | 0.500 | 1 | 2007 | 2008 | ||||||||
|
0.827 | 0.120 | 3 | 141744456 | intron variant | A/C | snv | 0.21 |
|
0.810 | 0.500 | 1 | 2012 | 2017 | ||||||||
|
0.807 | 0.200 | 4 | 147472512 | intergenic variant | C/A;G;T | snv |
|
0.810 | 0.500 | 1 | 2011 | 2014 | |||||||||
|
0.851 | 0.200 | 19 | 7166098 | intron variant | A/G;T | snv |
|
0.830 | 0.500 | 1 | 2011 | 2020 | |||||||||
|
0.807 | 0.240 | 17 | 50196930 | intron variant | T/A;G | snv |
|
0.710 | 0.500 | 1 | 2007 | 2011 | |||||||||
|
0.716 | 0.360 | 15 | 73929861 | intron variant | T/C | snv | 0.60 |
|
0.710 | 0.500 | 1 | 2008 | 2010 | ||||||||
|
0.925 | 0.160 | 21 | 45499218 | intron variant | G/A | snv | 0.40 |
|
0.710 | 0.500 | 1 | 2011 | 2018 |