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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.020 | 0.500 | 2 | 2006 | 2009 | |||
|
5 | 0.851 | 0.320 | 16 | 3243403 | missense variant | T/A;C | snv | 8.0E-06; 5.2E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.925 | 0.240 | 2 | 218390027 | missense variant | C/T | snv | 2.9E-04 | 7.7E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.020 | 1.000 | 2 | 2007 | 2017 | |||
|
3 | 0.882 | 0.360 | 12 | 109581427 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
7 | 0.807 | 0.280 | 1 | 247424041 | missense variant | G/A;C | snv | 8.3E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
10 | 0.790 | 0.400 | 12 | 109596515 | missense variant | G/A | snv | 1.6E-03 | 1.5E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.200 | 6 | 31577481 | missense variant | G/A;T | snv | 2.0E-05; 1.6E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.200 | 17 | 60150074 | missense variant | C/T | snv | 2.5E-04 | 1.4E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.200 | 16 | 3247166 | missense variant | G/C;T | snv | 4.0E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.200 | 6 | 52187730 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.200 | 6 | 52187736 | missense variant | G/A | snv | 5.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.851 | 0.240 | 16 | 50699557 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
54 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 0.020 | 1.000 | 2 | 2009 | 2019 | |||
|
1 | 1.000 | 0.200 | 9 | 97343500 | missense variant | C/G | snv | 0.27 | 0.30 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.752 | 0.440 | 7 | 128954671 | 3 prime UTR variant | C/T | snv | 0.64 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.280 | 7 | 128939366 | intron variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||
|
7 | 0.790 | 0.360 | 1 | 67189464 | intron variant | G/A | snv | 0.29 | 0.050 | 1.000 | 5 | 2010 | 2019 | ||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.830 | 0.800 | 5 | 2010 | 2017 | ||||
|
3 | 0.882 | 0.240 | 1 | 67294457 | intergenic variant | T/C | snv | 0.45 | 0.840 | 0.800 | 5 | 2010 | 2019 | ||||
|
9 | 0.790 | 0.360 | 1 | 206771300 | intron variant | T/C | snv | 0.71 | 0.830 | 1.000 | 4 | 2010 | 2015 | ||||
|
10 | 0.752 | 0.400 | 1 | 67274409 | upstream gene variant | G/A | snv | 0.30 | 0.030 | 1.000 | 3 | 2010 | 2019 | ||||
|
8 | 0.790 | 0.280 | 1 | 67287825 | intergenic variant | C/T | snv | 0.55 | 0.820 | 1.000 | 3 | 2010 | 2017 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.020 | 1.000 | 2 | 2010 | 2016 |