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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 19 | 39244283 | intron variant | A/G | snv | 0.30 | 0.060 | 1.000 | 6 | 2011 | 2015 | ||||
|
11 | 0.752 | 0.320 | X | 12906707 | start lost | A/G | snv | 0.31 | 0.30 | 0.030 | 1.000 | 3 | 2014 | 2018 | |||
|
35 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 0.030 | 1.000 | 3 | 2012 | 2016 | ||||
|
34 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2016 | |||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
10 | 0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 | 0.710 | 1.000 | 2 | 2012 | 2018 | ||||
|
3 | 0.882 | 0.120 | 4 | 76034048 | 3 prime UTR variant | A/G | snv | 0.61 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
15 | 0.732 | 0.360 | 19 | 7747847 | upstream gene variant | A/G | snv | 0.26 | 0.020 | 1.000 | 2 | 2010 | 2012 | ||||
|
8 | 0.827 | 0.200 | 19 | 11113589 | synonymous variant | A/G | snv | 0.63 | 0.66 | 0.020 | 1.000 | 2 | 2009 | 2015 | |||
|
4 | 0.851 | 0.160 | 9 | 99149374 | 3 prime UTR variant | A/G | snv | 0.17 | 0.020 | 0.500 | 2 | 2014 | 2017 | ||||
|
1 | 1.000 | 0.080 | 10 | 44371698 | 3 prime UTR variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 17 | 36105270 | missense variant | A/G | snv | 0.22 | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.851 | 0.160 | 7 | 55152484 | intron variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 12 | 47843520 | 3 prime UTR variant | A/G | snv | 1.6E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 3 | 107912675 | intron variant | A/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.882 | 0.120 | 3 | 52223085 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 20 | 31718172 | intron variant | A/G | snv | 0.38 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.200 | X | 12870008 | intron variant | A/G | snv | 0.11 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
7 | 0.790 | 0.280 | 1 | 10325413 | intron variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.763 | 0.200 | 3 | 46370444 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
43 | 0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
36 | 0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 | 0.010 | 1.000 | 1 | 2014 | 2014 |