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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 | 0.020 | < 0.001 | 2 | 2013 | 2014 | ||||
|
8 | 0.790 | 0.200 | 5 | 150848436 | synonymous variant | C/T | snv | 0.17 | 0.21 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 9 | 5556786 | intron variant | A/C;G | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
15 | 0.732 | 0.440 | 1 | 161674008 | missense variant | T/C | snv | 0.16 | 0.19 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.040 | 19 | 54632001 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.160 | 1 | 161671427 | stop gained | C/T | snv | 2.8E-05 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 10 | 93064409 | missense variant | G/A | snv | 0.10 | 8.8E-02 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
2 | 1.000 | 0.040 | 1 | 157575060 | 3 prime UTR variant | C/T | snv | 0.32 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
17 | 0.776 | 0.320 | 6 | 31572779 | missense variant | T/C | snv | 0.27 | 0.27 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
17 | 0.732 | 0.320 | 6 | 31572364 | 5 prime UTR variant | A/C | snv | 0.64 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
12 | 0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 9 | 5517559 | intron variant | C/T | snv | 0.28 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
12 | 0.752 | 0.320 | 9 | 114806486 | upstream gene variant | A/G | snv | 0.74 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 17 | 5517008 | intron variant | C/T | snv | 0.82 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
8 | 0.790 | 0.280 | 20 | 44651586 | missense variant | C/A;G;T | snv | 7.1E-06; 6.2E-02 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.120 | 17 | 5649930 | intergenic variant | G/C | snv | 0.44 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.040 | 0.500 | 4 | 2006 | 2018 | |||
|
1 | 1.000 | 0.040 | 5 | 35881341 | downstream gene variant | G/A | snv | 0.20 | 0.710 | 0.500 | 2 | 2013 | 2016 |