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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.776 | 0.160 | 14 | 94380925 | missense variant | T/A | snv | 2.3E-02 | 2.9E-02 | 0.020 | 1.000 | 2 | 2019 | 2019 | |||
|
14 | 0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 | 0.020 | 1.000 | 2 | 2019 | 2020 | ||||
|
4 | 0.882 | 0.080 | 4 | 87308948 | intron variant | T/A;C;G | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.160 | 4 | 88726273 | 3 prime UTR variant | T/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
22 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
23 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
12 | 0.763 | 0.320 | 11 | 35231725 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.742 | 0.240 | 2 | 54200842 | intron variant | A/T | snv | 0.56 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
54 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
37 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
10 | 0.776 | 0.400 | 1 | 207580276 | missense variant | A/G | snv | 0.25 | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 4 | 88728340 | 3 prime UTR variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.763 | 0.240 | 1 | 207616743 | missense variant | C/A;G | snv | 8.0E-06; 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.827 | 0.200 | 7 | 99767460 | intron variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.752 | 0.280 | 6 | 106326155 | upstream gene variant | T/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.763 | 0.360 | 6 | 106120159 | intron variant | C/T | snv | 0.76 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.827 | 0.160 | 6 | 160073377 | missense variant | A/C;G;T | snv | 0.90 | 0.91 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.120 | 6 | 159990235 | intron variant | A/G | snv | 0.83 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
24 | 0.672 | 0.520 | 2 | 177265309 | intron variant | T/C;G | snv | 0.89 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 137672095 | non coding transcript exon variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.807 | 0.160 | 4 | 87292656 | intergenic variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.120 | 2 | 54247527 | intron variant | T/A;G | snv | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.752 | 0.280 | 2 | 54283523 | intron variant | T/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 14 | 92074996 | intron variant | C/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2018 | 2018 |