Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.080 | 11 | 113399438 | missense variant | A/C;G | snv | 4.5E-06; 0.39 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.827 | 0.200 | 19 | 40850474 | intron variant | A/C;G;T | snv | 0.10; 4.4E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
29 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 8 | 3852138 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 8 | 27464080 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
30 | 0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 9 | 89042048 | synonymous variant | T/A;C | snv | 0.71 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 5 | 111524099 | intron variant | G/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 0.925 | 0.120 | 10 | 49632690 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
7 | 0.827 | 0.160 | 19 | 40852719 | intron variant | T/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 19 | 41006966 | missense variant | C/G;T | snv | 8.0E-06; 1.3E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 11 | 6412919 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 1 | 154565729 | non coding transcript exon variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 20 | 63350405 | missense variant | G/A;T | snv | 3.3E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.200 | 15 | 78573083 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.080 | 11 | 27681641 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 1.000 | 0.080 | 15 | 78595490 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.080 | 11 | 105762027 | intron variant | TT/-;T;TTT;TTTT;TTTTT;TTTTTTTTTTTT | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
9 | 0.807 | 0.080 | 5 | 175441697 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
20 | 0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.200 | 19 | 41089049 | stop gained | C/G;T | snv | 4.0E-06; 5.8E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 15 | 78618880 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 6 | 154091093 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 11 | 113396169 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 |