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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.240 | 3 | 189868597 | missense variant | G/A | snv | 0.710 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.240 | 3 | 189789816 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 3 | 189808465 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 3 | 189868596 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 3 | 189868641 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 3 | 189866712 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 3 | 189894419 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.280 | 3 | 189869372 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
3 | 0.882 | 0.240 | 3 | 189864379 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.240 | 12 | 106240156 | missense variant | C/T | snv | 2.4E-05 | 9.8E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.240 | 12 | 106240150 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 |