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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.770 | 0.875 | 8 | 2012 | 2019 | ||||
|
2 | 0.925 | 0.040 | 6 | 160548706 | intron variant | C/G | snv | 0.44 | 0.42 | 0.710 | 1.000 | 2 | 2009 | 2012 | |||
|
2 | 1.000 | 0.040 | 6 | 160585045 | splice donor variant | C/A;T | snv | 1.2E-05; 4.1E-02 | 0.710 | 1.000 | 2 | 2014 | 2018 | ||||
|
2 | 0.925 | 0.040 | 6 | 160541471 | intron variant | T/C | snv | 0.13 | 0.710 | 1.000 | 2 | 2009 | 2012 | ||||
|
5 | 0.925 | 0.080 | 6 | 160576086 | intron variant | A/G;T | snv | 0.710 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 6 | 160584578 | intron variant | C/T | snv | 4.5E-02 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||
|
3 | 1.000 | 0.040 | 6 | 160591981 | intron variant | T/C | snv | 2.8E-02 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
2 | 1.000 | 0.040 | 6 | 160596331 | intron variant | G/A | snv | 3.6E-02 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 1.000 | 0.040 | 6 | 160598834 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 6 | 160597142 | intron variant | C/T | snv | 0.63 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.732 | 0.160 | 6 | 160540105 | missense variant | T/C | snv | 5.6E-02 | 3.1E-02 | 0.090 | 0.778 | 9 | 2007 | 2019 | |||
|
1 | 1.000 | 0.040 | 6 | 160548597 | missense variant | A/C;G | snv | 4.0E-06; 0.64 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 6 | 160559298 | intron variant | T/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 160586464 | missense variant | G/C | snv | 0.35 | 0.42 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 6 | 160555116 | intron variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 |