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 | 10 | 8677306 | intergenic variant | C/T | snv | 0.73 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 7 | 123736506 | intron variant | G/A | snv | 0.43 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 7 | 111688341 | intergenic variant | A/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 9 | 29372503 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 3159033 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.040 | 12 | 4408974 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 1 | 156464911 | 3 prime UTR variant | G/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 10 | 94254865 | intron variant | C/G | snv | 0.44 | 0.47 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 18 | 57511578 | intergenic variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 11 | 102212877 | intron variant | T/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 11 | 30525891 | intron variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 20 | 10703511 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 12 | 56914476 | intergenic variant | T/A;C | snv | 0.56 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 10 | 94278929 | non coding transcript exon variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 3186748 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 156503322 | upstream gene variant | C/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 10 | 98942980 | intron variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.040 | 18 | 58342372 | intron variant | C/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 14 | 27191653 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 6 | 125727894 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | X | 40905504 | upstream gene variant | C/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 154572157 | regulatory region variant | A/C | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 202968144 | intron variant | C/T | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 32238272 | intergenic variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 12 | 4419506 | intergenic variant | C/- | delins | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 |