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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.776 | 0.080 | 3 | 133982275 | intron variant | G/A | snv | 0.67 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
22 | 0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.790 | 0.080 | 15 | 67884824 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.080 | 19 | 41352923 | missense variant | A/C;G | snv | 1.9E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
3 | 0.882 | 0.200 | 2 | 47806279 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.925 | 0.080 | 3 | 122258079 | intron variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.790 | 0.080 | 4 | 181892145 | intron variant | G/A | snv | 0.74 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.790 | 0.080 | 10 | 99585609 | intergenic variant | C/T | snv | 0.15 | 0.700 | 1.000 | 2 | 2014 | 2019 | ||||
|
21 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
13 | 0.742 | 0.160 | 19 | 33041394 | intron variant | C/T | snv | 0.22 | 0.710 | 1.000 | 4 | 2008 | 2019 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
23 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
16 | 0.732 | 0.280 | 2 | 47783349 | missense variant | G/A;C;T | snv | 0.18; 8.6E-06 | 0.020 | 1.000 | 2 | 2009 | 2009 | ||||
|
9 | 0.790 | 0.200 | 15 | 33866065 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.080 | 10 | 52764898 | downstream gene variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
34 | 0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.040 | 0.500 | 4 | 2005 | 2009 | ||||
|
10 | 0.790 | 0.080 | 6 | 138801103 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
29 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
31 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 4 | 2007 | 2018 | ||||
|
16 | 0.716 | 0.160 | 10 | 112559621 | intron variant | C/T | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.120 | 7 | 55174029 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.030 | 0.333 | 3 | 2003 | 2012 |