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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 19 | 58170494 | intron variant | G/T | snv | 0.14 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
3 | 1 | 55052487 | intron variant | C/A;G | snv | 0.800 | 1.000 | 3 | 2012 | 2019 | |||||||
|
4 | 2 | 21018633 | intron variant | A/G | snv | 0.14 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||||
|
24 | 0.752 | 0.240 | 11 | 61830500 | intron variant | A/G | snv | 0.31 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||
|
14 | 0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 | 0.800 | 1.000 | 3 | 2009 | 2012 | ||||
|
16 | 0.776 | 0.200 | 8 | 125474167 | intron variant | A/G | snv | 0.49 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||
|
6 | 8 | 9323885 | intron variant | A/G | snv | 0.87 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
4 | 19 | 19225799 | intron variant | C/T | snv | 9.4E-02 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||||
|
5 | 10 | 112174128 | intron variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2010 | 2018 | |||||||
|
3 | 2 | 62922422 | intron variant | G/A | snv | 0.72 | 0.800 | 1.000 | 3 | 2013 | 2018 | ||||||
|
15 | 1.000 | 0.040 | 8 | 125469835 | intron variant | A/G | snv | 0.54 | 0.800 | 1.000 | 3 | 2010 | 2019 | ||||
|
4 | 1.000 | 0.320 | 9 | 2640759 | intron variant | A/G | snv | 0.11 | 0.800 | 1.000 | 3 | 2013 | 2018 | ||||
|
2 | 5 | 75343434 | intron variant | T/G | snv | 0.35 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
7 | 0.882 | 0.120 | 5 | 75359901 | intron variant | C/T | snv | 0.35 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
3 | 5 | 123519722 | intron variant | G/A | snv | 0.61 | 0.800 | 1.000 | 3 | 2013 | 2018 | ||||||
|
2 | 13 | 32379251 | intron variant | T/C | snv | 0.52 | 0.800 | 1.000 | 3 | 2013 | 2018 | ||||||
|
11 | 0.925 | 0.080 | 9 | 133271182 | intron variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2015 | 2019 | |||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.800 | 1.000 | 3 | 2008 | 2019 | ||||
|
5 | 1.000 | 0.080 | 19 | 44898409 | intron variant | A/G | snv | 0.36 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||
|
2 | 2 | 168974151 | intron variant | G/A | snv | 0.57 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
5 | 2 | 21021128 | intron variant | G/T | snv | 0.35 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
4 | 1 | 25442446 | intron variant | A/G | snv | 0.58 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
4 | 1 | 62583880 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
3 | 11 | 126378316 | intron variant | A/T | snv | 0.12 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
7 | 8 | 125494452 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 2 | 2015 | 2018 |