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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 11 | 64807566 | frameshift variant | -/AGCTCCA | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.827 | 0.080 | 7 | 117531040 | frameshift variant | -/GA | ins | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.120 | X | 31172385 | missense variant | A/C | snv | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||||
|
5 | 0.882 | 0.080 | 6 | 10874672 | missense variant | A/C | snv | 9.1E-03 | 8.6E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
6 | 0.807 | 0.160 | 7 | 117531041 | missense variant | A/C;G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
11 | 0.742 | 0.280 | 7 | 142750600 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
23 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 0.080 | 0.875 | 8 | 2001 | 2016 | |||
|
24 | 0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
8 | 0.790 | 0.240 | 3 | 122188481 | intron variant | A/G | snv | 0.62 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
13 | 0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.763 | 0.120 | 16 | 84845883 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
23 | 0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 | 0.020 | 1.000 | 2 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.120 | 12 | 12717808 | 5 prime UTR variant | AGAG/- | delins | 3.8E-04 | 3.8E-04 | 0.700 | 0 | ||||||
|
9 | 0.763 | 0.240 | 3 | 122284955 | missense variant | C/A;G | snv | 0.040 | 0.750 | 4 | 2001 | 2016 | |||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.851 | 0.080 | 1 | 15445717 | missense variant | C/T | snv | 4.4E-03 | 3.8E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.200 | 8 | 118952785 | upstream gene variant | C/T | snv | 9.6E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 12 | 12717760 | 5 prime UTR variant | C/T | snv | 2.1E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 19 | 23269280 | non coding transcript exon variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.742 | 0.120 | 7 | 142751938 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
8 | 0.790 | 0.160 | 7 | 142774035 | missense variant | G/A | snv | 1.4E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 16 | 84849390 | missense variant | G/A | snv | 6.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
29 | 0.662 | 0.360 | 10 | 43119548 | missense variant | G/A;C;T | snv | 1.2E-04; 4.3E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
8 | 0.790 | 0.160 | 7 | 142773993 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.827 | 0.160 | 11 | 13492506 | stop gained | G/A;T | snv | 4.0E-06; 0.16 | 0.700 | 0 |