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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.900 | 0.857 | 14 | 2008 | 2018 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.080 | 0.875 | 8 | 2009 | 2018 | |||
|
14 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.830 | 1.000 | 5 | 2009 | 2016 | |||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.740 | 0.800 | 5 | 2008 | 2016 | |||
|
4 | 0.851 | 0.120 | 1 | 152578800 | downstream gene variant | A/G;T | snv | 0.820 | 1.000 | 4 | 2009 | 2011 | |||||
|
12 | 0.742 | 0.400 | 1 | 67219704 | missense variant | T/A;C | snv | 0.88 | 0.040 | 1.000 | 4 | 2008 | 2014 | ||||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.020 | 1.000 | 2 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 1 | 24191716 | upstream gene variant | T/C | snv | 0.68 | 0.700 | 1.000 | 2 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.240 | 1 | 67209833 | intron variant | C/T | snv | 0.30 | 0.020 | 0.500 | 2 | 2011 | 2016 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.020 | < 0.001 | 2 | 2017 | 2019 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.020 | 1.000 | 2 | 2014 | 2018 | |||
|
4 | 0.851 | 0.160 | 1 | 24193430 | intergenic variant | G/A | snv | 0.61 | 0.810 | 1.000 | 2 | 2010 | 2013 | ||||
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.020 | 0.500 | 2 | 2008 | 2012 | ||||
|
26 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.710 | 1.000 | 2 | 2015 | 2017 | ||||
|
6 | 0.807 | 0.120 | 1 | 24192153 | upstream gene variant | A/G | snv | 0.87 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 67238424 | intron variant | G/A | snv | 0.43 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 67239891 | intron variant | C/T | snv | 0.62 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 1 | 69322799 | intergenic variant | T/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.120 | 1 | 161502999 | upstream gene variant | C/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 152565478 | downstream gene variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 152621073 | downstream gene variant | C/T | snv | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.120 | 1 | 67256884 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 8208035 | intron variant | G/A | snv | 0.26 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.752 | 0.400 | 1 | 67274409 | upstream gene variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2009 | 2009 |