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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.807 | 0.080 | 12 | 110914287 | missense variant | C/A;T | snv | 0.740 | 1.000 | 17 | 1998 | 2019 | |||||
|
2 | 0.925 | 0.040 | 12 | 110911093 | missense variant | C/T | snv | 0.710 | 1.000 | 4 | 2008 | 2018 | |||||
|
1 | 1.000 | 0.040 | 12 | 110911094 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2008 | 2013 | |||||
|
1 | 1.000 | 0.040 | 12 | 110914267 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 12 | 110914200 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 12 | 110911090 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 12 | 110919117 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 12 | 110914221 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 12 | 110911096 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 12 | 110919133 | stop gained | C/A;G;T | snv | 4.0E-06; 8.0E-06; 2.0E-05 | 0.710 | 1.000 | 11 | 1996 | 2016 | ||||
|
8 | 0.851 | 0.040 | 12 | 110914287 | frameshift variant | -/CT | ins | 8.0E-06 | 0.040 | 1.000 | 4 | 2019 | 2019 |