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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 0.800 | 1.000 | 3 | 2009 | 2017 | ||||
|
28 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.800 | 1.000 | 2 | 2009 | 2019 | ||||
|
4 | 1.000 | 0.080 | 14 | 79474040 | intron variant | G/T | snv | 0.21 | 0.800 | 1.000 | 2 | 2009 | 2015 | ||||
|
1 | 5 | 123396542 | intron variant | T/C | snv | 0.73 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 14 | 79473182 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
6 | 0.827 | 0.240 | 14 | 79478819 | intron variant | A/G | snv | 0.25 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 14 | 79470621 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 11 | 27618676 | intron variant | T/G | snv | 0.73 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 11 | 27650705 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 11 | 8647890 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 0.080 | 16 | 53771053 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
7 | 1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.882 | 0.120 | 9 | 28414341 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.080 | 16 | 53771295 | intron variant | C/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 16 | 53781249 | intron variant | T/A;G | snv | 0.59 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 16 | 53785965 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 0.925 | 0.120 | 16 | 53785981 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
18 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 16 | 53783406 | intron variant | G/A | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 0.925 | 0.120 | 16 | 53811575 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 22 | 45752271 | intron variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 5 | 56564125 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
5 | 14 | 30045906 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
8 | 0.851 | 0.120 | 16 | 53808996 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 13 | 53528071 | intron variant | G/A;T | snv | 0.12 | 0.700 | 1.000 | 1 | 2015 | 2015 |