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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 7 | 101133793 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 16 | 50735351 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 19 | 10162696 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 19 | 10189741 | intron variant | A/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 9 | 122369409 | upstream gene variant | C/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 17 | 4930914 | intron variant | G/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 20 | 31411284 | intron variant | C/T | snv | 0.42 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 1 | 206771701 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 12 | 111335541 | intron variant | T/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 1 | 223138265 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.120 | 1 | 223129809 | intron variant | G/T | snv | 7.2E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 1 | 206770368 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.120 | 16 | 3073560 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 4 | 143382955 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.080 | 6 | 41750170 | intron variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.120 | 5 | 60943616 | intron variant | G/A | snv | 0.63 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.120 | 10 | 49542929 | upstream gene variant | A/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.280 | 1 | 223111257 | missense variant | T/A;C | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.120 | 12 | 112452972 | intron variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.120 | 7 | 30473155 | intron variant | A/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.120 | 16 | 50735652 | intron variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.240 | 9 | 117709275 | intron variant | C/A | snv | 9.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.807 | 0.240 | 12 | 112485589 | intron variant | G/A | snv | 1.4E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.200 | 1 | 206768519 | 3 prime UTR variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.807 | 0.120 | 7 | 22720869 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 |