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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.882 | 0.160 | 6 | 53016099 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.240 | 8 | 139618677 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 1.000 | 0.040 | 2 | 157761077 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 12 | 122762190 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 22 | 20994245 | missense variant | G/A;C | snv | 2.6E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.160 | 22 | 20989659 | stop gained | C/A;G;T | snv | 4.0E-06; 1.2E-05; 7.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 17 | 10525806 | missense variant | G/A | snv | 8.6E-04 | 1.9E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 17 | 10533547 | missense variant | C/T | snv | 1.6E-04 | 1.0E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.790 | 0.240 | 10 | 43086608 | intron variant | T/C | snv | 0.79 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.160 | 1 | 114713911 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 19 | 49862424 | stop gained | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 0.925 | 0.080 | 22 | 20995865 | missense variant | C/T | snv | 4.4E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 22 | 20994677 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.080 | 2 | 151724954 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 16 | 30979961 | missense variant | G/A | snv | 9.0E-05 | 7.7E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.160 | 1 | 114716090 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.882 | 22 | 20990476 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
32 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 |