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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 12 | 95633983 | intron variant | A/G | snv | 0.28 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||
|
1 | 2 | 120332155 | intergenic variant | T/C | snv | 0.15 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||||
|
1 | 6 | 151636579 | intergenic variant | C/T | snv | 0.21 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 12 | 28003148 | intergenic variant | C/A;G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
9 | 2 | 27375230 | intron variant | T/C | snv | 0.69 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 22 | 28765019 | intergenic variant | C/T | snv | 0.21 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 0.807 | 0.080 | 2 | 120487546 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 14 | 94329847 | intergenic variant | A/C;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 4 | 74577305 | intron variant | C/T | snv | 0.30 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 10 | 62427805 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 8 | 36988591 | upstream gene variant | C/T | snv | 0.26 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 8 | 36989597 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||||
|
2 | 1.000 | 0.080 | 6 | 151631197 | intergenic variant | G/A | snv | 6.6E-02 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
1 | 8 | 36995695 | regulatory region variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 22 | 40487595 | intron variant | C/T | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 30384102 | intron variant | C/T | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 151754327 | intron variant | TT/-;T;TTT;TTTT;TTTTT;TTTTTTTT;TTTTTTTTTT;TTTTTTTTTTTTTTTTT | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 8 | 36984537 | downstream gene variant | -/CTTTCTTTCT | delins | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 15 | 61928573 | intron variant | C/T | snv | 8.7E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 0.925 | 0.080 | 22 | 40382227 | intron variant | A/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 22 | 40601107 | intron variant | G/A | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 28001962 | intergenic variant | G/A | snv | 8.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 220527823 | upstream gene variant | -/AAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 118227648 | intergenic variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 118957860 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |