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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 9 | 84285454 | missense variant | T/A;C | snv | 7.2E-02; 1.2E-05 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
8 | 0.851 | 0.080 | X | 67545492 | missense variant | C/A;T | snv | 6.6E-06 | 0.020 | 1.000 | 2 | 2005 | 2008 | ||||
|
15 | 0.763 | 0.280 | 10 | 46046326 | 5 prime UTR variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 10 | 130032376 | intron variant | A/C;T | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 1 | 42694347 | intron variant | A/T | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.080 | 17 | 12995026 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.827 | 0.160 | 15 | 51344354 | intron variant | A/C | snv | 6.0E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.807 | 0.080 | 5 | 177094455 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.080 | 2 | 31563919 | intron variant | G/A | snv | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
47 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.120 | 8 | 16155085 | stop gained | G/A;C | snv | 8.3E-03; 2.8E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
9 | 0.763 | 0.240 | 8 | 127505328 | intergenic variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
21 | 0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.080 | 9 | 76763591 | intron variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 7 | 81729639 | missense variant | C/T | snv | 2.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
27 | 0.658 | 0.400 | 17 | 7633209 | missense variant | G/A | snv | 8.9E-02 | 8.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
10 | 0.790 | 0.080 | 1 | 182582202 | missense variant | A/C | snv | 0.54 | 0.49 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.882 | 0.080 | 2 | 31583901 | upstream gene variant | T/C | snv | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
62 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 19 | 39173897 | missense variant | G/A | snv | 8.2E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 4 | 94618065 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.851 | 0.080 | 19 | 50858171 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 7 | 74107928 | stop gained | G/A;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.080 | 16 | 70741552 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |