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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.752 | 0.160 | 10 | 112709306 | intron variant | A/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
18 | 0.708 | 0.200 | 10 | 112967084 | intron variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
15 | 0.724 | 0.400 | 3 | 122119472 | missense variant | G/A | snv | 0.30 | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
6 | 0.827 | 0.160 | 17 | 7673794 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
42 | 0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
29 | 0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.851 | 0.120 | 9 | 117717059 | 3 prime UTR variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
27 | 0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.080 | 17 | 50683692 | missense variant | G/A | snv | 3.7E-02 | 3.9E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.827 | 0.200 | 12 | 47841134 | downstream gene variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.080 | 13 | 73064505 | intron variant | A/C | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.776 | 0.240 | 2 | 216109091 | splice region variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 19 | 38813176 | upstream gene variant | G/T | snv | 9.0E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 14 | 102342318 | 3 prime UTR variant | G/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.120 | 13 | 49630641 | missense variant | G/A;C;T | snv | 8.8E-05; 1.9E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.160 | 10 | 17833714 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 6 | 31828202 | missense variant | G/A;T | snv | 1.9E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 7 | 127890817 | intron variant | A/G | snv | 1.7E-03 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
19 | 0.716 | 0.440 | 11 | 46719773 | missense variant | G/A;T | snv | 4.5E-06; 4.5E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
11 | 0.763 | 0.080 | 18 | 48926786 | intron variant | A/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.080 | 11 | 65493967 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |