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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.040 | 12 | 13608760 | missense variant | A/C | snv | 0.800 | 1.000 | 3 | 2014 | 2017 | |||||
|
1 | 1.000 | 12 | 13608769 | missense variant | T/A | snv | 0.800 | 1.000 | 3 | 2014 | 2017 | ||||||
|
4 | 0.882 | 0.040 | 12 | 13615149 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 2014 | 2017 | |||||
|
2 | 0.925 | 12 | 13567084 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1.000 | 12 | 13866166 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 13615170 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 13608647 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 12 | 13567063 | frameshift variant | A/- | del | 0.700 | 0 | |||||||||
|
6 | 0.851 | 0.040 | 12 | 13608755 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 12 | 13571922 | missense variant | T/G | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 12 | 13571910 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
6 | 0.925 | 0.040 | 12 | 13608611 | missense variant | C/A;T | snv | 0.700 | 0 |