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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.800 | 1.000 | 2 | 2011 | 2012 | |||
|
1 | 7 | 999367 | intron variant | A/C | snv | 0.62 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 17 | 81288009 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 8 | 71382353 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
2 | 6 | 126665850 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 2 | 8390126 | intron variant | G/A | snv | 0.35 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 4 | 1371339 | intron variant | T/C | snv | 0.55 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 9 | 110368883 | intron variant | T/G | snv | 8.7E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 2 | 50288880 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 19 | 37834896 | intron variant | C/G | snv | 0.25 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 20 | 61637438 | intron variant | C/T | snv | 0.60 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 0.882 | 0.080 | 5 | 158393594 | intron variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 4 | 75968235 | intron variant | C/T | snv | 0.33 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 13 | 18865983 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 4 | 88928621 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 156229203 | intron variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 21 | 21537795 | intron variant | C/T | snv | 0.43 | 0.47 | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 13 | 61104778 | intron variant | G/A | snv | 0.43 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 1.000 | 0.080 | 15 | 26766994 | intron variant | C/T | snv | 0.32 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 8 | 54566349 | intron variant | -/CT | delins | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 131040508 | intron variant | C/A;T | snv | 0.35 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 13 | 95028031 | intron variant | G/A | snv | 0.55 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 2 | 70537556 | intron variant | C/A | snv | 0.58 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 20 | 61353181 | intron variant | T/C | snv | 0.51 | 0.800 | 1.000 | 1 | 2010 | 2010 |