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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.763 | 0.320 | 7 | 28140937 | intron variant | T/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
4 | 0.882 | 0.120 | 15 | 89668592 | intron variant | C/T | snv | 0.29 | 0.020 | 1.000 | 2 | 2008 | 2013 | ||||
|
7 | 0.827 | 0.120 | 4 | 6291188 | intron variant | A/G | snv | 0.66 | 0.63 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
7 | 0.827 | 0.240 | 11 | 2148913 | intron variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.080 | 9 | 4290541 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
12 | 0.925 | 0.080 | 7 | 151717955 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 1.000 | 0.040 | 7 | 151716108 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 9 | 84822934 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 6 | 139547773 | intron variant | T/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.851 | 0.120 | 7 | 27936944 | intron variant | G/A | snv | 0.28 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
7 | 0.851 | 0.200 | 1 | 162115895 | intron variant | G/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.040 | 2 | 192049636 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.882 | 0.160 | 4 | 26083889 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.160 | 5 | 125983763 | intron variant | C/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.851 | 0.160 | 9 | 22088261 | intron variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.120 | 9 | 22077086 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 9 | 122407651 | intron variant | C/T | snv | 0.62 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.790 | 0.280 | 10 | 88316086 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
15 | 0.763 | 0.360 | 12 | 111681367 | intron variant | T/C | snv | 5.8E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
27 | 0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.040 | 2 | 43650017 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
19 | 0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2019 | 2019 |