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 | 0.100 | 1.000 | 14 | 1999 | 2019 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.070 | 1.000 | 7 | 2004 | 2019 | |||||
|
21 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1 | 161626229 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 161548502 | missense variant | T/C | snv | 1.5E-04 | 5.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
7 | 0.882 | 0.120 | 1 | 226225766 | missense variant | T/C;G | snv | 2.8E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.763 | 0.320 | 1 | 243695714 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2020 | |||||
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 2 | 19353152 | synonymous variant | C/A;T | snv | 1.6E-04; 5.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 2 | 188984825 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 2 | 207567506 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
5 | 0.925 | 0.080 | 2 | 135045855 | intron variant | G/T | snv | 0.83 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
19 | 0.752 | 0.400 | 2 | 135851076 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.827 | 0.160 | 2 | 38074704 | missense variant | C/T | snv | 1.1E-02 | 5.7E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 1.000 | 2 | 148947018 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
10 | 0.763 | 0.120 | 2 | 38071251 | missense variant | C/T | snv | 5.8E-03 | 1.7E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.400 | 3 | 167704889 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
5 | 0.851 | 0.240 | 3 | 57199901 | missense variant | C/G | snv | 2.8E-05 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
1 | 3 | 55488911 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 3 | 55491957 | upstream gene variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
7 | 0.851 | 0.200 | 3 | 89481208 | 3 prime UTR variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
30 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.020 | 1.000 | 2 | 2007 | 2017 |