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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
26 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2005 | 2010 | |||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.020 | 0.500 | 2 | 2013 | 2015 | ||||
|
1 | 1.000 | 0.120 | 1 | 247424639 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 10 | 79200216 | intron variant | T/C | snv | 0.64 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 7 | 41335525 | intergenic variant | C/A | snv | 3.2E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 10 | 63341266 | intron variant | C/G;T | snv | 0.87 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.240 | 10 | 63341311 | intron variant | G/C | snv | 0.87 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.724 | 0.240 | 10 | 62679011 | downstream gene variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.120 | 1 | 198731313 | intron variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.240 | 2 | 191090126 | intron variant | G/A | snv | 0.66 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.752 | 0.200 | 7 | 128949373 | 3 prime UTR variant | G/A | snv | 0.58 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 8 | 128775730 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
14 | 0.724 | 0.240 | 9 | 129894985 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.724 | 0.240 | 9 | 136369144 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 11 | 101900702 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
14 | 0.724 | 0.240 | 2 | 2944140 | intron variant | G/A | snv | 9.5E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 1 | 67203951 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.724 | 0.240 | 16 | 50634166 | 3 prime UTR variant | G/T | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 5 | 132475490 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 10 | 63164457 | downstream gene variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.724 | 0.240 | 13 | 106410694 | intergenic variant | T/C | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.120 | 2 | 191057148 | intron variant | C/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 |