| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv |
|
0.800 | 0.917 | 8 | 2007 | 2018 | |||||||||
|
1.000 | 0.080 | 10 | 110280017 | missense variant | A/C | snv |
|
0.800 | 1.000 | 5 | 2008 | 2015 | |||||||||
|
1.000 | 0.080 | 22 | 28699866 | missense variant | T/A;C | snv | 1.6E-05 |
|
0.700 | 1.000 | 5 | 2008 | 2015 | ||||||||
|
1.000 | 0.080 | 22 | 28699879 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 5 | 2008 | 2015 | ||||||||
|
0.790 | 0.200 | 8 | 127091692 | non coding transcript exon variant | T/A;C | snv |
|
0.720 | 1.000 | 4 | 2010 | 2014 | |||||||||
|
0.763 | 0.240 | 8 | 127505328 | intergenic variant | A/G;T | snv |
|
0.740 | 1.000 | 4 | 2008 | 2015 | |||||||||
|
0.882 | 0.160 | 8 | 127310936 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 3 | 2009 | 2013 | |||||||||
|
0.882 | 0.160 | 11 | 69228491 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 3 | 2009 | 2013 | |||||||||
|
0.882 | 0.160 | X | 51486831 | downstream gene variant | A/G | snv |
|
0.730 | 1.000 | 2 | 2008 | 2010 | |||||||||
|
0.925 | 0.080 | 2 | 85567174 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 12 | 49282227 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 5 | 140807616 | synonymous variant | G/A;C;T | snv | 4.0E-06; 4.4E-03; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv |
|
0.720 | 0.667 | 1 | 2013 | 2018 | |||||||||
|
1.000 | 0.080 | 1 | 98200569 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 7 | 118064652 | intergenic variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 8 | 126912414 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.807 | 0.160 | 8 | 127092098 | non coding transcript exon variant | C/A;T | snv |
|
0.720 | 0.667 | 1 | 2008 | 2012 | |||||||||
|
1.000 | 0.080 | 3 | 116671823 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | X | 51609183 | intergenic variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.080 | 8 | 3389886 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 15 | 81016085 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | X | 9846095 | intron variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv |
|
0.800 | 0.923 | 1 | 2008 | 2019 | |||||||||
|
0.925 | 0.080 | 6 | 32224554 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 17 | 37746322 | upstream gene variant | G/A;T | snv |
|
0.720 | 1.000 | 1 | 2008 | 2018 |