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 | 0.080 | 4 | 183688220 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 4 | 101816093 | intron variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 4 | 79049054 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv | 0.830 | 1.000 | 6 | 2009 | 2017 | |||||
|
3 | 0.882 | 0.200 | 6 | 32332045 | stop gained | G/A | snv | 0.19 | 0.23 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 2 | 213025508 | intron variant | G/T | snv | 0.78 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 173250332 | intergenic variant | G/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | X | 154018721 | missense variant | A/T | snv | 5.1E-03 | 1.8E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.851 | 0.160 | 1 | 161548543 | missense variant | A/C;T | snv | 4.3E-02; 5.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 7 | 8147464 | intron variant | T/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
8 | 0.776 | 0.400 | 2 | 191071078 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
14 | 0.724 | 0.200 | 2 | 191108308 | intron variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.763 | 0.360 | 2 | 191105153 | intron variant | G/C | snv | 0.79 | 0.020 | 1.000 | 2 | 2008 | 2010 | ||||
|
1 | 1.000 | 0.080 | 7 | 129028456 | intron variant | T/A;G | snv | 0.700 | 1.000 | 3 | 2008 | 2014 | |||||
|
2 | 0.925 | 0.080 | 7 | 28102567 | intron variant | G/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 7 | 50273756 | downstream gene variant | G/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 7 | 129043493 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 0.080 | 6 | 170281387 | upstream gene variant | G/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.827 | 0.200 | 19 | 54293995 | downstream gene variant | T/C | snv | 0.82 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 8 | 8861340 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
25 | 0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 1.000 | 3 | 2008 | 2017 | ||||
|
17 | 0.701 | 0.480 | 6 | 43785475 | 3 prime UTR variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2007 | 2007 |