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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.280 | 6 | 127957653 | intergenic variant | A/G;T | snv |
|
0.800 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
0.925 | 0.120 | 19 | 6668961 | intron variant | C/G;T | snv |
|
0.810 | 1.000 | 2 | 2011 | 2013 | |||||||||
|
1.000 | 0.080 | 1 | 116495665 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2009 | 2011 | |||||||||
|
1.000 | 0.080 | 12 | 57739473 | intron variant | G/A;T | snv |
|
0.820 | 1.000 | 2 | 2009 | 2018 | |||||||||
|
0.851 | 0.160 | 22 | 50532837 | upstream gene variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2011 | 2019 | |||||||||
|
1.000 | 0.080 | 11 | 60993140 | intron variant | C/A;G | snv |
|
0.850 | 1.000 | 2 | 2009 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 121824730 | intron variant | A/C;G | snv |
|
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 | 19 | 47158236 | intron variant | G/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 | |||||||||
|
0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv |
|
0.810 | 1.000 | 2 | 2011 | 2018 | |||||||||
|
0.925 | 0.160 | 20 | 63778360 | intron variant | C/G;T | snv |
|
0.810 | 1.000 | 2 | 2011 | 2019 | |||||||||
|
0.763 | 0.480 | 6 | 32696074 | intergenic variant | C/A;T | snv |
|
0.800 | 1.000 | 2 | 2007 | 2015 | |||||||||
|
0.925 | 0.080 | 6 | 31279290 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2007 | 2010 | |||||||||
|
0.882 | 0.160 | 10 | 92722160 | intergenic variant | G/A;T | snv |
|
0.800 | 1.000 | 2 | 2011 | 2013 | |||||||||
|
0.925 | 0.160 | 3 | 105867870 | intron variant | T/A;C | snv |
|
0.830 | 0.750 | 2 | 2010 | 2017 | |||||||||
|
1.000 | 0.080 | 5 | 142119476 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 6 | 29726650 | non coding transcript exon variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 1 | 161502368 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 12 | 57670954 | upstream gene variant | A/C;T | snv |
|
0.710 | 1.000 | 1 | 2009 | 2015 | |||||||||
|
0.763 | 0.280 | 11 | 128511079 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.807 | 0.320 | 6 | 7118757 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 5 | 177313243 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 |