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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.160 | 19 | 10317045 | 3 prime UTR variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.790 | 0.160 | 19 | 10354167 | missense variant | G/A | snv | 4.6E-03 | 4.9E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
12 | 0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
10 | 0.752 | 0.320 | 19 | 10362257 | splice region variant | A/C;G | snv | 0.50 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
13 | 0.732 | 0.360 | 19 | 10364976 | missense variant | C/A | snv | 0.27 | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
14 | 0.724 | 0.240 | 19 | 10476920 | intergenic variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
15 | 0.716 | 0.320 | 9 | 104818690 | synonymous variant | A/G | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2007 | ||||
|
6 | 0.807 | 0.160 | 19 | 10489742 | synonymous variant | G/A | snv | 1.9E-02 | 1.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 1.000 | 0.040 | 4 | 105154341 | intron variant | T/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 1.000 | 0.040 | 4 | 105185196 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.120 | 5 | 10521556 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.160 | 6 | 105987394 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.827 | 0.120 | 6 | 106026874 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 6 | 106074152 | intron variant | T/C | snv | 0.86 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.120 | 6 | 106082455 | intron variant | G/A | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.724 | 0.240 | 13 | 106410694 | intergenic variant | T/C | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.807 | 0.120 | 12 | 106804833 | intron variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.120 | 5 | 10689450 | intron variant | T/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 5 | 10695414 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.763 | 0.360 | 6 | 106971734 | missense variant | G/A | snv | 0.35 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 10752203 | intron variant | C/T | snv | 0.50 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 11 | 1075920 | splice region variant | G/A | snv | 0.18 | 0.20 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.040 | 7 | 107795423 | intron variant | T/C | snv | 4.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.120 | 7 | 107809588 | downstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 7 | 107812658 | downstream gene variant | G/A;T | snv | 0.810 | 1.000 | 2 | 2009 | 2018 |