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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 0.667 | 3 | 2006 | 2011 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1 | 226888954 | missense variant | A/G | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
10 | 0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 1 | 206116696 | missense variant | C/G;T | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
3 | 0.925 | 0.080 | 1 | 231694534 | missense variant | C/T | snv | 5.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
6 | 0.851 | 0.120 | 1 | 53246063 | 3 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
3 | 0.925 | 0.080 | 1 | 231694162 | missense variant | C/T | snv | 1.0E-04 | 3.5E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
13 | 0.752 | 0.200 | 1 | 232008852 | missense variant | A/T | snv | 0.26 | 0.29 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.925 | 0.080 | 2 | 166002660 | missense variant | C/A;T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 2 | 161419040 | missense variant | A/G | snv | 0.700 | 0 | ||||||||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2015 | 2019 | |||||
|
23 | 0.701 | 0.200 | 3 | 8760542 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 1.000 | 0.040 | 3 | 197295369 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2010 | 2019 | |||||
|
8 | 0.827 | 0.160 | 4 | 73743328 | 3 prime UTR variant | A/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.080 | 4 | 46332192 | intron variant | A/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 4 | 46332685 | splice region variant | A/G;T | snv | 0.44 | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.851 | 0.080 | 4 | 46312576 | synonymous variant | T/C | snv | 0.40 | 0.38 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.882 | 0.080 | 4 | 46303716 | intron variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
19 | 0.732 | 0.320 | 4 | 148436323 | missense variant | C/T | snv | 0.88 | 0.89 | 0.010 | 1.000 | 1 | 2015 | 2015 |