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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | 21 | 43066260 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 21 | 43066353 | missense variant | G/A;C | snv | 2.1E-04 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 21 | 43066279 | missense variant | C/T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 21 | 43066264 | missense variant | C/G;T | snv | 6.4E-05; 2.8E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 21 | 43059299 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 21 | 43063931 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 21 | 43065645 | missense variant | C/A;T | snv | 5.4E-06; 1.1E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 21 | 43058862 | missense variant | C/T | snv | 3.3E-04 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | 21 | 43058970 | splice acceptor variant | T/G | snv | 7.9E-05 | 0.700 | 0 | |||||||
|
11 | 0.763 | 0.240 | 21 | 43063074 | coding sequence variant | -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG | delins | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||
|
22 | 0.701 | 0.360 | 21 | 43063074 | missense variant | A/G | snv | 0.720 | 1.000 | 2 | 1995 | 2007 |