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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.080 | 17 | 7674225 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 1993 | 1993 | |||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 11 | 129612280 | non coding transcript exon variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
7 | 0.790 | 0.240 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.080 | 7 | 55191839 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
42 | 0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
6 | 0.827 | 0.200 | 10 | 129527035 | intron variant | C/T | snv | 0.22 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.080 | 16 | 79212426 | 3 prime UTR variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
7 | 0.851 | 0.120 | 16 | 78386878 | missense variant | G/A;C;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.120 | 16 | 81268089 | missense variant | A/G;T | snv | 0.36 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
9 | 0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.080 | 6 | 161785882 | missense variant | T/C | snv | 1.6E-05 | 4.2E-05 | 0.010 | < 0.001 | 1 | 2020 | 2020 | |||
|
3 | 0.882 | 0.080 | 6 | 32857312 | missense variant | C/T | snv | 4.1E-06; 4.1E-04 | 4.4E-04 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
21 | 0.701 | 0.440 | 11 | 61792609 | 5 prime UTR variant | G/A | snv | 0.34 | 0.26 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
31 | 0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
11 | 0.790 | 0.120 | 13 | 108211243 | missense variant | G/A | snv | 0.18 | 0.16 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.080 | 11 | 129695357 | regulatory region variant | C/T | snv | 0.22 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
18 | 0.716 | 0.400 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 1.5E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
13 | 0.742 | 0.240 | 5 | 83076927 | intron variant | C/T | snv | 1.7E-02 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
12 | 0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.080 | 22 | 23775729 | intron variant | A/G | snv | 0.92 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.080 | 20 | 63355597 | splice acceptor variant | T/C | snv | 0.16 | 0.16 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.080 | 11 | 2001574 | upstream gene variant | A/G | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
15 | 0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.120 | 22 | 23783502 | synonymous variant | T/C | snv | 2.2E-02 | 1.8E-02 | 0.010 | < 0.001 | 1 | 2019 | 2019 |