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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv |
|
0.770 | 0.778 | 2 | 2009 | 2016 | |||||||||
|
0.925 | 0.080 | 1 | 10506158 | intron variant | A/G | snv | 0.27 |
|
0.710 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.925 | 0.080 | 1 | 113905767 | missense variant | C/G;T | snv | 0.22 | 0.15 |
|
0.710 | 1.000 | 1 | 2013 | 2018 | |||||||
|
1.000 | 0.080 | 1 | 21861803 | missense variant | G/A | snv | 1.7E-04 | 1.7E-04 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.120 | 1 | 54010411 | splice acceptor variant | C/T | snv | 6.2E-04 | 2.4E-03 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 1 | 152935309 | intron variant | G/C;T | snv | 5.6E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 |
|
0.730 | 0.750 | 1 | 2013 | 2018 | ||||||||
|
0.882 | 0.080 | 1 | 202218048 | intron variant | G/A | snv | 0.37 |
|
0.710 | 1.000 | 1 | 2013 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 212365260 | missense variant | C/G | snv | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 214384776 | missense variant | T/C;G | snv | 4.0E-06; 5.9E-03 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 31798459 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 151176787 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 1 | 46267540 | missense variant | G/A | snv | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 16421936 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 1 | 160637365 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 154590263 | missense variant | T/A | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 6168224 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 1 | 21598453 | missense variant | T/C | snv | 9.5E-03 | 1.0E-02 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 196995756 | missense variant | A/G;T | snv | 6.8E-05; 1.0E-04 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 186950718 | missense variant | C/G;T | snv | 1.1E-04 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 94098891 | missense variant | G/A | snv | 5.2E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 43977088 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 228319181 | missense variant | G/A | snv | 2.1E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 102913687 | missense variant | G/T | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 1 | 45332786 | missense variant | G/A | snv | 8.0E-06 |
|
0.700 | 0 |