| 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 | 1.000 | 0.080 | 8 | 32488779 | intron variant | G/A | snv | 0.62 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 22 | 23896636 | intron variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 5 | 143693985 | intron variant | A/G | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 47918069 | intron variant | A/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 191832003 | intron variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 12 | 125711743 | intergenic variant | G/A | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 203747715 | downstream gene variant | C/T | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 11 | 94347083 | intergenic variant | T/G | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 21471579 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 10 | 17391921 | intron variant | C/T | snv | 5.4E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 5 | 42721976 | downstream gene variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 5 | 156327182 | 5 prime UTR variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 1 | 165016519 | intergenic variant | G/A | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 15 | 93371222 | intron variant | C/T | snv | 2.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 19 | 39409277 | 3 prime UTR variant | TT/-;TTT | delins | 0.11 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 7 | 22719988 | intron variant | G/T | snv | 0.60 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 12 | 27501430 | intron variant | -/C;CAAAC | ins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 2 | 15076492 | intergenic variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 19 | 39406653 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 3 | 145768292 | regulatory region variant | G/A | snv | 0.71 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 20 | 8264646 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 11 | 75263946 | 3 prime UTR variant | C/T | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 109322402 | intron variant | -/T | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 5 | 43383400 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 1 | 65420715 | 5 prime UTR variant | T/A;C;G | snv | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 |