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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.240 | 2 | 97732893 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.240 | 2 | 97734709 | missense variant | G/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.280 | 4 | 122408207 | intron variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 4 | 2744488 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 8 | 143215294 | missense variant | A/C | snv | 0.700 | 1.000 | 4 | 2009 | 2014 | |||||
|
3 | 0.925 | 0.040 | 8 | 143215376 | frameshift variant | ACCCTGGCAAAGCTCCC/- | delins | 0.700 | 1.000 | 4 | 2009 | 2014 | |||||
|
7 | 0.807 | 0.160 | 9 | 136370362 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.120 | 9 | 136371975 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.040 | 11 | 117995684 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.160 | 16 | 67648973 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 19 | 5844781 | missense variant | A/C;G;T | snv | 0.18; 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 19 | 5844332 | missense variant | C/T | snv | 8.5E-02 | 0.11 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
33 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 0.700 | 0 |