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 | 0.851 | 0.160 | 16 | 50732975 | 3 prime UTR variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 12 | 122811747 | intron variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.752 | 0.200 | 17 | 45942346 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.120 | 17 | 45637484 | non coding transcript exon variant | G/A;C;T | snv | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.080 | 17 | 45983493 | missense variant | A/G | snv | 4.0E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
18 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 0.700 | 0 | ||||||
|
1 | 15 | 101010802 | missense variant | C/A | snv | 9.3E-03 | 8.4E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 1.000 | 0.040 | 1 | 7970934 | missense variant | G/A | snv | 7.9E-03 | 7.0E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.882 | 0.200 | 15 | 89321842 | missense variant | T/C | snv | 6.6E-03 | 7.0E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
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 | |||
|
15 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.100 | 0.958 | 24 | 2005 | 2020 | |||
|
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 | 1.000 | 0.040 | 11 | 2167905 | missense variant | C/T | snv | 1.1E-04 | 1.4E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
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 | |||
|
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 | |||
|
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 | |||
|
6 | 0.827 | 0.080 | 3 | 132477995 | missense variant | A/G | snv | 4.2E-06 | 3.5E-05 | 0.020 | 1.000 | 2 | 2014 | 2015 | |||
|
2 | 1.000 | 0.040 | 1 | 20645640 | missense variant | T/C | snv | 1.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 1.000 | 0.080 | 20 | 3910806 | missense variant | A/T | snv | 6.4E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.851 | 0.040 | 1 | 20649109 | stop gained | C/T | snv | 4.0E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 19 | 48966681 | synonymous variant | G/A | snv | 8.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
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 | 0.120 | 19 | 48966317 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
8 | 0.851 | 0.120 | 12 | 40340380 | missense variant | T/C | snv | 3.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 |