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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 16 | 31190398 | missense variant | C/T | snv | 1.2E-04 | 1.6E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 12 | 57572647 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.120 | 22 | 35381192 | missense variant | G/C | snv | 4.3E-02 | 4.1E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.080 | 16 | 4476291 | 5 prime UTR variant | A/G | snv | 0.74 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 15 | 77615433 | synonymous variant | T/A;C | snv | 0.67 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 16 | 31185061 | missense variant | C/G;T | snv | 1.3E-04; 4.1E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 89257779 | missense variant | G/A | snv | 0.25 | 0.31 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 15 | 101066684 | missense variant | G/A | snv | 0.31 | 0.25 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.080 | 16 | 89919458 | missense variant | G/A | snv | 9.6E-04 | 2.7E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.040 | 12 | 40252984 | missense variant | C/T | snv | 4.9E-04 | 2.4E-04 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
15 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
9 | 0.763 | 0.120 | 12 | 40340404 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.040 | 1 | 107480824 | missense variant | G/A | snv | 6.1E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 10 | 102244438 | upstream gene variant | G/A | snv | 0.14 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.080 | X | 152652814 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
30 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.080 | 10 | 102238914 | intron variant | A/T | snv | 0.66 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 151801375 | missense variant | T/A;C | snv | 9.9E-02; 4.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.080 | 9 | 28717575 | intergenic variant | T/C;G | snv | 0.35 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.790 | 0.120 | 12 | 40309109 | missense variant | G/A;T | snv | 8.5E-02; 1.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.120 | 12 | 40263898 | missense variant | C/A;G | snv | 4.0E-06; 8.7E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 16 | 75630480 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |