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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.763 | 0.120 | 1 | 11022352 | splice acceptor variant | G/A | snv | 4.0E-06 | 0.100 | 1.000 | 14 | 2011 | 2019 | ||||
|
15 | 0.742 | 0.200 | 1 | 11022553 | missense variant | G/A;C | snv | 3.0E-05 | 0.090 | 1.000 | 9 | 2009 | 2016 | ||||
|
7 | 0.790 | 0.200 | 1 | 11022451 | missense variant | G/T | snv | 0.070 | 1.000 | 7 | 2008 | 2019 | |||||
|
7 | 0.807 | 0.120 | 1 | 11022418 | missense variant | A/G | snv | 8.0E-06 | 0.060 | 1.000 | 6 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 247423230 | missense variant | G/C;T | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2015 | 2019 | ||||
|
3 | 0.882 | 0.080 | 1 | 170026661 | intron variant | C/A;T | snv | 0.830 | 1.000 | 4 | 2009 | 2014 | |||||
|
6 | 0.807 | 0.120 | 1 | 11016874 | missense variant | C/G;T | snv | 8.0E-06; 2.2E-04 | 0.040 | 0.500 | 4 | 2008 | 2017 | ||||
|
3 | 0.925 | 0.080 | 1 | 11022400 | missense variant | C/A | snv | 0.040 | 1.000 | 4 | 2013 | 2019 | |||||
|
1 | 1.000 | 0.080 | 1 | 176149024 | missense variant | T/C | snv | 3.3E-05 | 7.0E-06 | 0.030 | 1.000 | 3 | 2003 | 2008 | |||
|
1 | 1.000 | 0.080 | 1 | 156842164 | synonymous variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.020 | 1.000 | 2 | 2016 | 2017 | |||
|
6 | 0.807 | 0.120 | 1 | 11022301 | missense variant | G/A;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 18634498 | missense variant | G/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 11022532 | missense variant | A/G | snv | 2.6E-05 | 1.4E-05 | 0.020 | 1.000 | 2 | 2012 | 2019 | |||
|
5 | 0.851 | 0.120 | 1 | 11018836 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2015 | 2018 | |||||
|
2 | 0.925 | 0.080 | 1 | 11022290 | missense variant | G/A;C;T | snv | 4.0E-06; 1.2E-05 | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 175182047 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 1 | 28150741 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.080 | 1 | 175171183 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 1 | 11022278 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 1 | 113981288 | missense variant | C/G | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 205775090 | splice region variant | C/A;T | snv | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 153543790 | missense variant | C/A;G | snv | 1.2E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 44011717 | synonymous variant | C/T | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 1 | 155957961 | intron variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2013 | 2013 |