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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
23 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
26 | 0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
37 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | ||||||||
|
14 | 0.763 | 0.040 | 5 | 161873196 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2016 | 2019 | |||||
|
27 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.080 | 5 | 162153132 | stop gained | C/T | snv | 0.030 | 1.000 | 3 | 2015 | 2017 | |||||
|
8 | 0.790 | 0.160 | 19 | 13277122 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.790 | 0.080 | 20 | 63439644 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.200 | 3 | 192335434 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.807 | 0.120 | 2 | 166002716 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.040 | 5 | 161890983 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.827 | 0.040 | 16 | 56336744 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.827 | 0.120 | 19 | 13298768 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.080 | 2 | 165374737 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.827 | 0.160 | 9 | 128203609 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.040 | 16 | 56192353 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.080 | 2 | 165130238 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.080 | 20 | 63442482 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.040 | 5 | 161890982 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.040 | 5 | 161895668 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.160 | 12 | 51790401 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 12 | 51807100 | missense variant | C/G;T | snv | 0.720 | 1.000 | 2 | 2019 | 2020 | |||||
|
3 | 0.882 | 0.200 | MT | 3946 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.080 | 5 | 162149153 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |