| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 16 | 10901533 | synonymous variant | G/A;C | snv | 2.6E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
54 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 6 | 31271236 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
14 | 0.742 | 0.480 | 16 | 10877045 | intron variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
7 | 0.807 | 0.240 | 16 | 10906991 | missense variant | G/C | snv | 0.30 | 0.28 | 0.010 | 1.000 | 1 | 2007 | 2007 |