| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.160 | 19 | 41333933 | intron variant | G/T | snv | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.120 | 2 | 237331726 | intron variant | A/T | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.120 | 17 | 37743881 | intron variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.080 | 5 | 35863436 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.080 | 10 | 79557264 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.080 | 10 | 79557363 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.080 | 10 | 6042690 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.200 | 8 | 6531695 | intron variant | T/G | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 10 | 6053873 | intron variant | A/G | snv | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 2 | 237324840 | intron variant | G/A | snv | 0.29 | 0.26 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 6 | 154010889 | 5 prime UTR variant | A/G | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.120 | 5 | 1268529 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 4 | 144653087 | intron variant | G/T | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 4 | 144553321 | intron variant | A/G | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 5 | 148888172 | intergenic variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.280 | 8 | 11502129 | intron variant | G/T | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 8 | 107366717 | intron variant | G/A | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.160 | 8 | 127015257 | intron variant | T/C | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.200 | 12 | 121155216 | intron variant | C/T | snv | 0.15 | 0.19 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 20 | 63528115 | 3 prime UTR variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 16 | 75647605 | missense variant | T/A;C | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 2 | 203251967 | missense variant | C/T | snv | 0.94 | 0.89 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |