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 | 0.040 | 8 | 22696108 | intron variant | T/A;C;G | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
9 | 0.776 | 0.320 | 16 | 88643329 | 3 prime UTR variant | C/T | snv | 0.49 | 0.48 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 2 | 112778091 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||||
|
4 | 0.851 | 0.120 | 10 | 95058349 | missense variant | T/A | snv | 1.6E-02 | 4.9E-02 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
3 | 0.882 | 0.040 | 1 | 230063651 | intron variant | C/T | snv | 0.28 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
6 | 0.807 | 0.080 | 1 | 162066689 | upstream gene variant | G/A | snv | 8.6E-02 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 15 | 99712576 | missense variant | G/T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 7 | 80663151 | synonymous variant | A/C;G;T | snv | 1.5E-03 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 7 | 80663132 | missense variant | C/T | snv | 3.1E-04 | 2.5E-04 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.040 | 5 | 177093265 | synonymous variant | C/G | snv | 2.0E-05 | 7.0E-05 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
4 | 0.851 | 0.080 | 3 | 148741190 | missense variant | T/C;G | snv | 4.0E-06; 8.8E-05 | 0.010 | < 0.001 | 1 | 1999 | 1999 | ||||
|
37 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
38 | 0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
8 | 0.807 | 0.120 | 1 | 162065484 | upstream gene variant | T/C | snv | 0.22 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.040 | 17 | 36064257 | upstream gene variant | A/G | snv | 0.22 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
7 | 0.882 | 0.040 | 12 | 6019277 | missense variant | T/A;C | snv | 4.0E-06; 0.69 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
12 | 0.807 | 0.240 | 2 | 11218994 | missense variant | G/C;T | snv | 0.49 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 21 | 42218507 | intron variant | G/A | snv | 0.33 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
10 | 0.776 | 0.160 | 17 | 4735268 | missense variant | G/A | snv | 0.47 | 0.41 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
48 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
6 | 0.807 | 0.080 | 1 | 7929506 | intron variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 17 | 58326988 | intron variant | A/G | snv | 0.51 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
39 | 0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 | 0.010 | < 0.001 | 1 | 2018 | 2018 |