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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 1.000 | 0.040 | 4 | 144559628 | intron variant | A/G | snv | 0.43 | 0.820 | 1.000 | 4 | 2009 | 2013 | ||||
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.030 | 0.667 | 3 | 2010 | 2017 | |||
|
1 | 1.000 | 0.040 | 2 | 223993376 | intron variant | A/G | snv | 0.10 | 0.020 | 1.000 | 2 | 2009 | 2019 | ||||
|
16 | 0.742 | 0.440 | 16 | 28502082 | missense variant | A/G | snv | 0.28 | 0.24 | 0.020 | 1.000 | 2 | 2016 | 2016 | |||
|
4 | 1.000 | 0.040 | 15 | 78461760 | intron variant | A/G | snv | 0.29 | 0.710 | 1.000 | 2 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 6 | 33510719 | intergenic variant | A/G | snv | 0.55 | 0.810 | 1.000 | 2 | 2011 | 2017 | ||||
|
2 | 1.000 | 0.040 | 2 | 214283391 | intron variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 14 | 94377595 | 3 prime UTR variant | A/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 2 | 218395121 | 3 prime UTR variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.040 | 9 | 114943689 | intron variant | A/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 15 | 78482334 | intron variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.925 | 0.080 | 1 | 196722334 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 107412042 | intron variant | A/G | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 16 | 55484965 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 3 | 25628675 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 4 | 105710713 | intron variant | A/G | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 14 | 94377481 | 3 prime UTR variant | A/G | snv | 0.70 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.160 | 5 | 132660753 | 3 prime UTR variant | A/G | snv | 0.81 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.040 | 20 | 32182402 | downstream gene variant | A/G | snv | 1.0E-01 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 52953988 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.040 | 4 | 144567946 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.925 | 0.120 | 15 | 78603787 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 2 | 969893 | intron variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 8 | 53535172 | upstream gene variant | A/G | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 2 | 122330705 | intron variant | A/G | snv | 4.9E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 |