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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
20 | 0.724 | 0.400 | 17 | 63476833 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.280 | 9 | 35066710 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.925 | 0.200 | 13 | 101089846 | splice region variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.925 | 0.120 | 1 | 31728621 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
22 | 0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
17 | 0.752 | 0.440 | 1 | 169594713 | missense variant | T/G | snv | 8.2E-02 | 7.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
74 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
47 | 0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.742 | 0.480 | 14 | 104773557 | synonymous variant | C/T | snv | 0.30 | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 |