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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.240 | 19 | 7166365 | synonymous variant | C/G;T | snv | 4.0E-06; 0.26 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.020 | 1.000 | 2 | 2010 | 2019 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.925 | 0.160 | 8 | 19966981 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 8 | 26756585 | 3 prime UTR variant | G/C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
7 | 0.827 | 0.200 | 6 | 26094139 | intron variant | G/A;T | snv | 0.52; 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 5 | 96429259 | missense variant | C/A;T | snv | 4.0E-06; 2.1E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.882 | 0.120 | 2 | 165749801 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
19 | 0.752 | 0.400 | 2 | 135851076 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.807 | 0.160 | 10 | 111079821 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 22 | 46216775 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
3 | 0.925 | 0.120 | 10 | 62655424 | missense variant | A/C;G | snv | 0.80 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
15 | 0.732 | 0.320 | 1 | 156138697 | synonymous variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1 | 156115240 | missense variant | A/G | snv | 2.5E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
3 | 0.925 | 0.160 | 2 | 240875132 | missense variant | C/T | snv | 1.2E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.882 | 0.120 | 1 | 156135271 | missense variant | A/G | snv | 4.8E-04 | 1.6E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.882 | 0.200 | 1 | 156138593 | missense variant | G/A | snv | 2.1E-04 | 7.7E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 |