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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 7 | 114614352 | intron variant | G/A | snv | 0.73 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 3 | 53673125 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 1 | 246551218 | missense variant | G/A | snv | 3.2E-03 | 1.6E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.040 | 7 | 114600061 | intron variant | T/A | snv | 0.73 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 7 | 103540259 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 7 | 114602621 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.040 | X | 43744144 | synonymous variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.040 | 5 | 112844212 | 3 prime UTR variant | C/A | snv | 7.2E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.040 | 12 | 2607117 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 7 | 114617959 | intron variant | C/G | snv | 0.73 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 19 | 48098197 | synonymous variant | T/C | snv | 0.61 | 0.64 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 1.000 | 0.040 | 8 | 142875277 | missense variant | G/A;T | snv | 7.8E-02; 2.0E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 22 | 50679152 | missense variant | T/C | snv | 0.43 | 0.46 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.040 | 7 | 124746694 | missense variant | C/T | snv | 6.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.925 | 0.040 | 3 | 8767498 | synonymous variant | G/A | snv | 0.29 | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.040 | X | 43745594 | 3 prime UTR variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.040 | X | 5893491 | missense variant | G/A;C;T | snv | 7.6E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.040 | X | 5893489 | synonymous variant | G/A;C;T | snv | 1.2E-05; 6.7E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.040 | 20 | 14766825 | intron variant | T/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.240 | 8 | 142879686 | missense variant | C/T | snv | 8.4E-02 | 4.1E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.200 | X | 43731695 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 1.000 | 0.040 | 11 | 3038127 | missense variant | C/G;T | snv | 3.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.040 | 2 | 50552821 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
4 | 0.925 | 0.040 | 7 | 116672385 | 5 prime UTR variant | C/G | snv | 0.40 | 0.030 | 1.000 | 3 | 2009 | 2014 | ||||
|
4 | 0.882 | 0.040 | 4 | 61873823 | intron variant | G/A | snv | 0.59 | 0.010 | 1.000 | 1 | 2019 | 2019 |