| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.120 | 5 | 44706396 | intergenic variant | A/G | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.120 | 17 | 43104138 | missense variant | G/T | snv | 1.0E-04 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.807 | 0.120 | 17 | 54979110 | intron variant | G/A | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 13 | 32398582 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2003 | 2003 | ||||||||
|
0.827 | 0.160 | X | 67717484 | missense variant | G/A;C;T | snv | 2.2E-05; 1.1E-05; 9.1E-04 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.827 | 0.160 | 6 | 151666222 | intron variant | G/T | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.200 | 2 | 162152278 | 5 prime UTR variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.200 | 7 | 128241246 | upstream gene variant | G/A | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.200 | 17 | 42552898 | 5 prime UTR variant | A/C | snv | 7.8E-03 | 8.2E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.200 | 7 | 128241254 | upstream gene variant | A/T | snv | 8.2E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.200 | 14 | 64294403 | 5 prime UTR variant | A/C | snv | 7.0E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.200 | 11 | 5234514 | 5 prime UTR variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.200 | 11 | 5227101 | 5 prime UTR variant | A/- | del |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.240 | X | 67686067 | missense variant | G/A | snv |
|
0.020 | 1.000 | 2 | 1997 | 1999 | |||||||||
|
0.752 | 0.240 | 11 | 101129483 | 5 prime UTR variant | C/T | snv | 3.6E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.280 | X | 67686064 | missense variant | G/A | snv |
|
0.020 | 1.000 | 2 | 1997 | 1999 | |||||||||
|
0.732 | 0.280 | 2 | 217041109 | intergenic variant | A/G | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.280 | 11 | 5227097 | 5 prime UTR variant | T/A;G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.776 | 0.280 | 10 | 121577821 | intron variant | A/G | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.280 | 11 | 5227099 | 5 prime UTR variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.280 | 11 | 5227101 | 5 prime UTR variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.280 | 11 | 5227102 | 5 prime UTR variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.280 | 11 | 5227103 | 5 prime UTR variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.724 | 0.280 | 11 | 5227100 | 5 prime UTR variant | T/C | snv | 8.9E-04 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |