| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 4 | 184650403 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.120 | 11 | 76194756 | splice region variant | G/A | snv | 0.27 | 0.23 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.752 | 0.320 | 1 | 1212042 | synonymous variant | C/T | snv | 0.37 | 0.31 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.160 | 15 | 40695330 | 5 prime UTR variant | G/C | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.160 | 15 | 40695367 | 5 prime UTR variant | G/C;T | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 11 | 102790228 | 3 prime UTR variant | A/G | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.752 | 0.320 | 11 | 102955810 | upstream gene variant | C/T | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 1211863 | intron variant | A/C | snv | 8.1E-02 | 8.2E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 2 | 47466820 | intron variant | G/A;T | snv | 0.34; 4.0E-06 | 0.40 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 67586503 | missense variant | C/G;T | snv | 7.6E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.120 | 1 | 15525539 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 11 | 102795585 | synonymous variant | T/C | snv | 0.92 | 0.95 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 19 | 11978928 | missense variant | C/G;T | snv | 4.0E-06; 1.7E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 12 | 7938243 | upstream gene variant | T/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.160 | 19 | 45408744 | missense variant | A/C | snv | 0.21 | 0.20 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 16 | 30783312 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 10 | 89172624 | regulatory region variant | G/A | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.160 | 8 | 128933908 | intron variant | C/A | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |