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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins | 0.100 | 1.000 | 18 | 2014 | 2019 | |||||
|
26 | 0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 | 0.100 | 0.900 | 10 | 2011 | 2018 | ||||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.070 | 1.000 | 7 | 2009 | 2016 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.050 | 1.000 | 5 | 2007 | 2019 | ||||
|
2 | 0.925 | 0.160 | 19 | 39244145 | missense variant | G/A | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2017 | 2019 | ||||
|
16 | 0.724 | 0.240 | 2 | 168973818 | missense variant | A/C;G;T | snv | 0.57 | 0.030 | 1.000 | 3 | 2011 | 2018 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.030 | 1.000 | 3 | 2014 | 2019 | ||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.030 | 1.000 | 3 | 2016 | 2019 | |||||
|
22 | 0.689 | 0.320 | 19 | 54173068 | missense variant | T/A;C;G | snv | 0.030 | 0.667 | 3 | 2016 | 2019 | |||||
|
4 | 0.851 | 0.240 | 4 | 76001835 | 3 prime UTR variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
14 | 0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
10 | 0.776 | 0.160 | 4 | 141733394 | 3 prime UTR variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2016 | 2017 | |||||
|
5 | 0.851 | 0.160 | 19 | 39254506 | downstream gene variant | C/A;G;T | snv | 0.020 | 0.500 | 2 | 2011 | 2012 | |||||
|
25 | 0.677 | 0.520 | 11 | 71456403 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2013 | 2017 | |||||
|
2 | 0.925 | 0.160 | X | 12885361 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2014 | |||||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.020 | 1.000 | 2 | 2009 | 2019 | |||||
|
42 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
3 | 0.882 | 0.120 | 12 | 112911065 | missense variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2013 | 2015 | |||||
|
10 | 0.752 | 0.480 | X | 12889539 | 3 prime UTR variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||
|
64 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
17 | 0.708 | 0.480 | 10 | 52771925 | upstream gene variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2011 | 2012 | |||||
|
1 | 1.000 | 0.080 | 19 | 39248515 | missense variant | T/A;G | snv | 0.22 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 9 | 21367799 | missense variant | T/A;C | snv | 4.4E-06; 8.8E-06 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
15 | 0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 42536097 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |