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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.724 | 0.240 | 1 | 67203951 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.120 | 3 | 49618715 | intron variant | T/C | snv | 8.6E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.120 | 12 | 68114342 | intron variant | G/A;T | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 2 | 65459327 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 2 | 144724260 | intron variant | A/G | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.724 | 0.240 | 5 | 132475490 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.120 | 5 | 150849504 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 5 | 10521556 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.827 | 0.240 | 1 | 67209833 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.827 | 0.120 | 7 | 2830351 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 1 | 206788283 | intron variant | A/G | snv | 0.74 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 1 | 200909599 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 1 | 113858609 | intron variant | A/G | snv | 0.53 | 0.57 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
6 | 0.807 | 0.120 | 5 | 159402519 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 6 | 7900476 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.807 | 0.120 | 12 | 106804833 | intron variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 4 | 80005847 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.240 | 10 | 79300560 | intron variant | C/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
14 | 0.724 | 0.240 | 10 | 79287626 | intron variant | G/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.120 | 10 | 79282718 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 2 | 181183725 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.807 | 0.160 | 6 | 14715651 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.120 | 2 | 230283413 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.120 | 7 | 50136058 | intron variant | G/A | snv | 0.33 | 0.33 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 1 | 210621464 | intron variant | T/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2013 | 2013 |