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 | 0.800 | 1.000 | 19 | 1996 | 2017 | |||||
|
4 | 0.882 | 0.080 | 12 | 110919133 | stop gained | C/A;G;T | snv | 4.0E-06; 8.0E-06; 2.0E-05 | 0.800 | 1.000 | 16 | 1996 | 2017 | ||||
|
1 | 1.000 | 0.080 | 12 | 110919145 | missense variant | A/G | snv | 0.800 | 1.000 | 10 | 1996 | 2017 | |||||
|
1 | 1.000 | 0.080 | 12 | 110913316 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 10 | 1996 | 2017 | ||||
|
1 | 1.000 | 0.080 | 12 | 110919160 | missense variant | C/T | snv | 3.7E-04 | 2.0E-04 | 0.800 | 1.000 | 6 | 1996 | 2003 | |||
|
2 | 0.925 | 0.080 | 12 | 110911081 | missense variant | T/A | snv | 0.700 | 1.000 | 6 | 1996 | 2003 | |||||
|
1 | 1.000 | 0.080 | 12 | 110911176 | splice acceptor variant | C/A;G;T | snv | 4.0E-06; 4.8E-05; 4.0E-06 | 0.700 | 1.000 | 3 | 2001 | 2016 | ||||
|
3 | 0.882 | 0.080 | 12 | 110914221 | missense variant | G/T | snv | 0.700 | 1.000 | 3 | 2011 | 2017 | |||||
|
2 | 0.925 | 0.080 | 12 | 110911090 | missense variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2011 | 2014 | |||||
|
4 | 0.882 | 0.080 | 12 | 110913097 | missense variant | T/G | snv | 2.0E-04 | 2.9E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 12 | 110915759 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 |