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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.240 | 6 | 41276002 | 3 prime UTR variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
6 | 0.827 | 0.200 | 18 | 31405413 | intron variant | G/A | snv | 0.74 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.280 | 18 | 31595244 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.790 | 0.200 | 18 | 33336845 | intron variant | -/CTTTTTGCT | delins | 7.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.160 | 18 | 30217168 | intergenic variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 18 | 32231169 | intron variant | C/T | snv | 1.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
23 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.827 | 0.120 | 18 | 31699870 | regulatory region variant | C/T | snv | 8.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.040 | 20 | 4699655 | stop gained | T/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.160 | 18 | 31681955 | intron variant | C/T | snv | 0.89 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 8 | 142612823 | 3 prime UTR variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 116836182 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 9 | 121312342 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.790 | 0.120 | 5 | 168418786 | intron variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 18 | 31593025 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 9 | 121327419 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
16 | 0.742 | 0.360 | 18 | 31598580 | missense variant | G/T | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2017 | 2018 | |||
|
2 | 0.925 | 0.120 | 19 | 1061893 | splice region variant | G/A;C | snv | 2.5E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.160 | 10 | 93594018 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
8 | 0.790 | 0.120 | 21 | 25897620 | missense variant | C/T | snv | 4.5E-04 | 3.0E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
6 | 0.807 | 0.240 | 12 | 21357370 | intron variant | T/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.200 | 12 | 69350194 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 1 | 32014083 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 2 | 127129099 | intergenic variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 2 | 162183437 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 |