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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.100 | 1.000 | 15 | 1996 | 2014 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.060 | 0.667 | 6 | 1999 | 2012 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 0.500 | 2 | 2009 | 2012 | |||||
|
2 | 1.000 | 0.080 | 1 | 230710933 | intron variant | T/C | snv | 8.2E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1 | 230709809 | intron variant | G/A | snv | 3.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
16 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.080 | 1 | 230704350 | intron variant | T/A;C;G | snv | 1.2E-05; 0.11; 2.0E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
13 | 0.742 | 0.240 | 1 | 159711078 | downstream gene variant | C/T | snv | 0.77 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 1 | 42934681 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1 | 196736919 | missense variant | G/A | snv | 1.4E-03 | 5.5E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1 | 196994083 | missense variant | G/A | snv | 1.1E-02 | 3.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
20 | 0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
7 | 0.827 | 0.200 | 1 | 196717788 | intron variant | G/A | snv | 0.23 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.925 | 0.120 | 1 | 204156683 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.200 | 1 | 42935767 | intron variant | A/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.080 | 1 | 179564715 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
13 | 0.742 | 0.360 | 2 | 165941111 | missense variant | G/A | snv | 1.3E-04 | 1.1E-04 | 0.020 | 1.000 | 2 | 2014 | 2017 | |||
|
2 | 1.000 | 2 | 227008112 | missense variant | G/A | snv | 1.6E-04 | 1.8E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 2 | 227283830 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
10 | 0.763 | 0.400 | 2 | 113132727 | missense variant | T/A;C | snv | 4.0E-06; 0.31 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
3 | 0.925 | 0.200 | 2 | 173598126 | intergenic variant | T/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.160 | 2 | 227256385 | missense variant | G/A;T | snv | 4.0E-06; 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
41 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2002 | 2002 |