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 | 1.000 | 14 | 2008 | 2018 | |||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.030 | 0.667 | 3 | 2009 | 2018 | ||||
|
10 | 0.752 | 0.400 | 1 | 67274409 | upstream gene variant | G/A | snv | 0.30 | 0.030 | 1.000 | 3 | 2012 | 2017 | ||||
|
14 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2009 | 2018 | |||||
|
13 | 0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv | 0.710 | 1.000 | 3 | 2013 | 2018 | |||||
|
19 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 0.720 | 1.000 | 3 | 2012 | 2018 | ||||
|
9 | 0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 | 0.020 | < 0.001 | 2 | 2013 | 2014 | ||||
|
10 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 0.020 | 1.000 | 2 | 2012 | 2018 | |||
|
3 | 0.882 | 0.120 | 1 | 113870045 | non coding transcript exon variant | G/A | snv | 0.36 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.710 | 1.000 | 2 | 2016 | 2017 | |||
|
17 | 0.724 | 0.280 | 1 | 159714875 | upstream gene variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2016 | 2019 | |||||
|
5 | 0.827 | 0.120 | 1 | 24978623 | intergenic variant | T/C | snv | 0.55 | 0.700 | 1.000 | 2 | 2013 | 2016 | ||||
|
2 | 0.925 | 0.040 | 1 | 67196939 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 1 | 200968901 | downstream gene variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
15 | 0.732 | 0.440 | 1 | 161674008 | missense variant | T/C | snv | 0.16 | 0.19 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
19 | 0.695 | 0.440 | 1 | 196740644 | missense variant | G/T | snv | 0.20 | 0.15 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.827 | 0.120 | 1 | 161502999 | upstream gene variant | C/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 1 | 67256884 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.160 | 1 | 161671427 | stop gained | C/T | snv | 2.8E-05 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 1 | 67157615 | intron variant | G/A;T | snv | 5.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 24970693 | non coding transcript exon variant | G/A | snv | 0.44 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.120 | 1 | 113943285 | intron variant | T/C | snv | 8.1E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 67295682 | intergenic variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
14 | 0.724 | 0.240 | 1 | 67203951 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 |