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 | 6 | 100152221 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 10 | 100230590 | intron variant | T/A | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 10 | 100296259 | stop gained | G/A;C | snv | 1.4E-02; 4.1E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 10 | 100297033 | missense variant | G/A | snv | 1.3E-02 | 5.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 17 | 10058819 | intron variant | T/C | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 100718331 | upstream gene variant | C/T | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 100730346 | intron variant | G/C | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | X | 100850151 | missense variant | C/T | snv | 7.0E-03 | 2.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 2 | 100937295 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 2 | 101025798 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 11 | 101127486 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 7 | 101138800 | 3 prime UTR variant | T/C | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 15 | 101365328 | intron variant | T/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 4 | 101786634 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1.000 | 0.080 | 3 | 102036894 | TF binding site variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 10 | 102168617 | downstream gene variant | G/A | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
16 | 0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 12 | 102419939 | intron variant | A/G | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 12 | 102430212 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 12 | 102438008 | intron variant | T/G | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 102444358 | intron variant | C/G | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 12 | 102464131 | intron variant | T/C | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 12 | 102476127 | intron variant | C/T | snv | 8.7E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 11 | 102799093 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 19 | 10286167 | 3 prime UTR variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |