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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.724 | 0.200 | 6 | 31398818 | upstream gene variant | C/T | snv | 0.41 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
31 | 0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv | 0.020 | 1.000 | 2 | 2010 | 2013 | |||||
|
4 | 0.851 | 0.160 | 12 | 4273870 | 5 prime UTR variant | C/T | snv | 0.58 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
10 | 0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
24 | 0.677 | 0.400 | 5 | 168768351 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 17 | 7673589 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
31 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
3 | 0.882 | 0.160 | 5 | 157158243 | intron variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
38 | 0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
6 | 0.807 | 0.160 | 2 | 102343821 | 3 prime UTR variant | C/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 19 | 53788157 | non coding transcript exon variant | A/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.763 | 0.240 | 9 | 125241745 | non coding transcript exon variant | T/C | snv | 0.72 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.200 | 2 | 241851697 | intron variant | G/A | snv | 0.10 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.851 | 0.120 | 1 | 241872080 | missense variant | C/T | snv | 0.11; 6.8E-05 | 7.6E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
5 | 0.827 | 0.200 | 22 | 40410091 | 3 prime UTR variant | -/GTCT;GTCTGTCT | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.200 | 2 | 241855866 | intron variant | T/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
9 | 0.790 | 0.200 | 2 | 241853198 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.851 | 0.120 | 5 | 141625349 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.080 | 19 | 41009317 | missense variant | T/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 |