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 | 0.040 | 10 | 60072953 | missense variant | T/C | snv | 2.4E-04 | 3.8E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 10 | 60074916 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.882 | 0.040 | 10 | 60080073 | intron variant | C/T | snv | 0.30 | 0.070 | 0.857 | 7 | 2009 | 2018 | ||||
|
2 | 0.925 | 0.040 | 10 | 60145969 | splice region variant | T/C | snv | 7.6E-03 | 8.2E-03 | 0.020 | 1.000 | 2 | 2016 | 2018 | |||
|
1 | 1.000 | 0.040 | 10 | 60300624 | intron variant | C/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 60311283 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 10 | 60316870 | intron variant | C/A | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.120 | 10 | 60325579 | intron variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 10 | 60337573 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 60339194 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 60345295 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 10 | 60366098 | intron variant | G/C | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 10 | 60376448 | intron variant | T/G | snv | 9.7E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 60376521 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 10 | 60386818 | intron variant | T/C | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 10 | 60391257 | intron variant | C/T | snv | 9.7E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 60393180 | intron variant | G/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 60396396 | intron variant | A/G | snv | 9.5E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 60401860 | intron variant | A/G | snv | 9.7E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.776 | 0.160 | 10 | 60420054 | intron variant | C/T | snv | 7.5E-02 | 0.900 | 0.933 | 15 | 2008 | 2018 | ||||
|
3 | 0.882 | 0.040 | 10 | 60421370 | intron variant | G/A | snv | 7.5E-02 | 0.800 | 1.000 | 2 | 2011 | 2014 | ||||
|
2 | 0.925 | 0.040 | 10 | 60425736 | intron variant | C/T | snv | 7.9E-02 | 0.800 | 1.000 | 2 | 2013 | 2014 | ||||
|
7 | 0.827 | 0.040 | 10 | 60462349 | intron variant | T/C | snv | 8.0E-02 | 0.810 | 1.000 | 3 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 60514979 | intron variant | T/G | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.040 | 10 | 60519366 | intron variant | C/T | snv | 9.5E-02 | 0.800 | 1.000 | 3 | 2011 | 2014 |