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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 7 | 92779056 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 3 | 2011 | 2018 | ||||||
|
3 | 17 | 40000459 | downstream gene variant | C/G;T | snv | 0.800 | 1.000 | 3 | 2010 | 2014 | |||||||
|
1 | 2 | 135728087 | downstream gene variant | C/T | snv | 0.97 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 4 | 74105479 | intergenic variant | G/A | snv | 0.57 | 0.700 | 1.000 | 2 | 2014 | 2018 | ||||||
|
5 | 5 | 132341949 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 14 | 68713254 | intron variant | C/T | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 113108257 | intron variant | A/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 2 | 159712765 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 2 | 61476184 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 18 | 50621423 | intron variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 18 | 50621506 | intron variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 19 | 10222312 | 3 prime UTR variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 12 | 88451258 | intergenic variant | A/G;T | snv | 0.56 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 10 | 63250912 | intron variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 12 | 88449697 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 8 | 7048518 | intergenic variant | A/G | snv | 0.60 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 12 | 51967869 | intron variant | C/G | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
13 | 10 | 27068541 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
5 | 2 | 43237679 | intron variant | G/A | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 3 | 128603031 | intergenic variant | G/- | delins | 0.89 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 14 | 77396337 | intron variant | C/- | delins | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 6 | 22359286 | intron variant | G/A | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 2 | 218156235 | regulatory region variant | C/T | snv | 6.9E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 5 | 142130697 | intron variant | A/-;AA;AAA;AAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 19 | 48640988 | intron variant | -/G | ins | 0.700 | 1.000 | 1 | 2016 | 2016 |