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 | 0.851 | 0.040 | 10 | 103916188 | intron variant | T/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.790 | 0.120 | 10 | 103920874 | upstream gene variant | T/G | snv | 0.26 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 1.000 | 10 | 103954641 | intergenic variant | C/T | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
11 | 0.776 | 0.200 | 11 | 108272729 | missense variant | C/A;G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 11 | 108278480 | intron variant | T/G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
39 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 11 | 108444879 | intron variant | C/T | snv | 1.6E-02 | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
2 | 1.000 | 11 | 108488962 | intron variant | C/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 2 | 11166852 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 2 | 11524625 | intron variant | A/C | snv | 9.8E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 2 | 11540277 | intron variant | C/T | snv | 0.59 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 2 | 11562535 | missense variant | A/C | snv | 0.54 | 0.44 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 7 | 117273513 | downstream gene variant | C/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 2 | 11961997 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 12 | 123379073 | upstream gene variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.040 | 5 | 1283640 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
29 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | X | 132180234 | intergenic variant | T/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.040 | 6 | 152232879 | intron variant | C/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 6 | 152241136 | intron variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
3 | 1.000 | 6 | 152245912 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 6 | 152343404 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.827 | 0.160 | 3 | 169759718 | downstream gene variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.776 | 0.080 | 3 | 169768720 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 |