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 | 0.925 | 0.080 | 10 | 93593997 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.200 | 11 | 31802714 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 14 | 74259689 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 14 | 74239626 | frameshift variant | -/G | delins | 1.3E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
60 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
18 | 0.732 | 0.280 | 19 | 52212729 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 4 | 182754413 | missense variant | C/A;G | snv | 4.2E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 22 | 45923167 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 22 | 45949926 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.120 | 14 | 69952261 | stop gained | C/G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 119341673 | missense variant | G/A | snv | 8.5E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 1 | 47416547 | missense variant | G/A | snv | 3.6E-05 | 6.4E-05 | 0.700 | 0 | ||||||
|
6 | 0.807 | 0.200 | 2 | 208128231 | missense variant | G/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
64 | 0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
15 | 0.827 | 0.240 | 21 | 37486563 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 4 | 182799938 | missense variant | C/T | snv | 9.2E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 1 | 47416625 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
87 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.080 | 3 | 25593603 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.240 | 3 | 25580574 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | X | 17687870 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.200 | X | 40075092 | missense variant | G/A;C | snv | 5.6E-06 | 0.030 | 1.000 | 3 | 2009 | 2019 | ||||
|
9 | 0.851 | 0.120 | 3 | 25596428 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||
|
2 | 0.925 | 0.080 | 17 | 32940899 | missense variant | A/C | snv | 0.020 | 1.000 | 2 | 2015 | 2019 |