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 | MT | 14598 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
|
12 | 0.807 | 0.160 | 16 | 56336799 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
18 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 0.700 | 0 | ||||||
|
1 | 1 | 20638074 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||||
|
1 | 16 | 2498332 | missense variant | C/G;T | snv | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
13 | 0.742 | 0.120 | 4 | 89828170 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
4 | 0.925 | 0.120 | 19 | 48966317 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 1.000 | 0.040 | 12 | 40310461 | missense variant | G/A | snv | 4.4E-05 | 7.7E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.807 | 0.080 | 3 | 184327401 | missense variant | G/A;T | snv | 2.1E-04 | 2.8E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.925 | 0.080 | 3 | 184327376 | missense variant | C/T | snv | 4.0E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
22 | 0.724 | 0.400 | 15 | 89323426 | missense variant | C/G | snv | 9.7E-04 | 7.9E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.925 | 0.080 | 22 | 38115667 | missense variant | G/A | snv | 9.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 0.925 | 0.080 | 22 | 32498453 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.925 | 0.040 | 12 | 119869138 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | X | 43743818 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1.000 | 0.040 | 12 | 122811747 | intron variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.040 | 16 | 55698539 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.925 | 0.080 | X | 78117385 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 1 | 119140608 | missense variant | A/C;G;T | snv | 3.2E-03; 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1 | 7962861 | missense variant | A/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
3 | 1 | 20633841 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
17 | 0.724 | 0.240 | 17 | 45991484 | missense variant | G/A;T | snv | 1.5E-03; 1.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.160 | 19 | 15180807 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.776 | 0.160 | 16 | 46662452 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.080 | 4 | 89828156 | missense variant | A/C | snv | 8.0E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 |