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 | 4 | 74577305 | intron variant | C/T | snv | 0.30 | 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 | ||||||
|
2 | 1.000 | 0.080 | 6 | 151631197 | intergenic variant | G/A | snv | 6.6E-02 | 0.700 | 1.000 | 2 | 2016 | 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 | 2 | 632922 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 118957860 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
7 | 0.807 | 0.080 | 2 | 120487546 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 2 | 120332155 | intergenic variant | T/C | snv | 0.15 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||||
|
9 | 2 | 27375230 | intron variant | T/C | snv | 0.69 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 160269067 | intron variant | T/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 8 | 36989597 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||||
|
1 | 6 | 151754327 | intron variant | TT/-;T;TTT;TTTT;TTTTT;TTTTTTTT;TTTTTTTTTT;TTTTTTTTTTTTTTTTT | delins | 0.700 | 1.000 | 1 | 2018 | 2018 |