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 | 1 | 168125471 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 224163321 | downstream gene variant | C/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 204501001 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 45383639 | intron variant | G/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 150724317 | upstream gene variant | GCTTCTGCA/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 205693590 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 58438061 | intron variant | C/G | snv | 6.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 198625652 | intergenic variant | C/T | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 198710886 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 67015161 | intron variant | AAAAAAAA/-;AA;AAAA;AAAAA;AAAAAA;AAAAAAA;AAAAAAAAA;AAAAAAAAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 118996267 | downstream gene variant | C/T | snv | 0.76 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 109538187 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 101236803 | upstream gene variant | T/C | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 161044656 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 182568359 | regulatory region variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 171751446 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 89755569 | intron variant | C/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1 | 158613048 | intron variant | G/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 16200034 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 27897801 | intron variant | C/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1 | 86361950 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 56661246 | intron variant | C/T | snv | 0.16 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 165548492 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 165681916 | intron variant | T/A | snv | 0.67 | 0.700 | 1.000 | 1 | 2012 | 2012 |