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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 19 | 35058218 | intron variant | C/A;T | snv | 0.10 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.807 | 0.280 | 12 | 102402744 | intron variant | G/C;T | snv | 0.76 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
12 | 0.851 | 0.160 | 16 | 56971567 | intron variant | C/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.827 | 0.160 | 2 | 12500615 | intron variant | G/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.080 | 11 | 69087765 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 1.000 | 0.040 | 9 | 68818296 | intron variant | G/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 6 | 136738789 | intron variant | T/C | snv | 0.52 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.080 | 17 | 3574518 | intron variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.120 | 1 | 7940737 | intron variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.080 | 3 | 185793096 | intron variant | A/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.851 | 0.120 | 2 | 9956965 | intron variant | G/T | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.080 | 1 | 50444313 | intron variant | G/A | snv | 8.5E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 7 | 114389196 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.882 | 0.120 | 12 | 89666809 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.790 | 0.200 | 15 | 58431476 | intron variant | C/G;T | snv | 0.30 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.280 | 7 | 150992309 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
15 | 0.724 | 0.400 | 6 | 32182519 | intron variant | C/A | snv | 0.12 | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.851 | 0.200 | 14 | 81203689 | intron variant | G/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
16 | 0.851 | 0.120 | 4 | 139829967 | intron variant | G/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | 0.080 | 3 | 74273636 | intron variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.080 | 6 | 151962144 | intron variant | G/A | snv | 0.60 | 0.010 | 1.000 | 1 | 2008 | 2008 |