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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.080 | 3 | 189665394 | intron variant | C/T | snv | 0.38 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
34 | 0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
18 | 0.716 | 0.320 | 5 | 1320607 | non coding transcript exon variant | C/T | snv | 0.33 | 0.38 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 1.000 | 0.080 | 5 | 109998341 | regulatory region variant | C/G | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
19 | 0.695 | 0.440 | 15 | 78513681 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
42 | 0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
187 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 10 | 22643219 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.851 | 0.080 | 7 | 55174777 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 0.763 | 0.240 | 10 | 99782821 | 5 prime UTR variant | C/T | snv | 0.17 | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 1 | 241722005 | intron variant | C/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.100 | 1.000 | 15 | 2013 | 2019 | |||
|
36 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.020 | 0.500 | 2 | 2013 | 2014 | ||||
|
17 | 0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.827 | 0.080 | 22 | 29941597 | intron variant | T/C | snv | 0.78 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
21 | 0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.080 | 21 | 36071595 | intron variant | T/C | snv | 0.74 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 7 | 55155894 | missense variant | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 2 | 201287058 | 3 prime UTR variant | T/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
44 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.742 | 0.360 | 20 | 46119460 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
22 | 0.683 | 0.280 | 12 | 53967210 | intron variant | C/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
18 | 0.724 | 0.320 | 18 | 63319604 | 5 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.160 | 5 | 68300260 | 3 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.807 | 0.160 | 10 | 113729830 | 3 prime UTR variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 |