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 | 19 | 54938096 | missense variant | G/A;T | snv | 2.7E-04; 4.0E-06 | 0.800 | 1.000 | 8 | 2006 | 2014 | |||||
|
1 | 1.000 | 19 | 54938095 | missense variant | C/A;G;T | snv | 4.8E-05; 8.0E-06 | 0.800 | 0 | ||||||||
|
1 | 1.000 | 19 | 54930571 | missense variant | T/C | snv | 1.4E-04 | 4.7E-04 | 0.800 | 0 | |||||||
|
1 | 1.000 | 19 | 54939626 | missense variant | A/C | snv | 3.5E-05 | 0.800 | 0 | ||||||||
|
1 | 1.000 | 19 | 54938222 | missense variant | G/A | snv | 0.800 | 0 | |||||||||
|
1 | 1.000 | 19 | 54936313 | missense variant | G/C | snv | 5.3E-04 | 9.1E-05 | 0.700 | 1.000 | 3 | 2008 | 2013 | ||||
|
1 | 1.000 | 19 | 54940930 | splice donor variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 19 | 54934488 | splice donor variant | C/T | snv | 5.2E-05 | 7.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 19 | 54936400 | missense variant | G/A | snv | 6.0E-05 | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 19 | 54939525 | stop gained | G/A | snv | 3.6E-05 | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 19 | 54936415 | missense variant | G/C | snv | 4.8E-05 | 1.1E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 19 | 54936279 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 19 | 54940945 | frameshift variant | -/C | delins | 1.0E-04 | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 19 | 54938143 | frameshift variant | A/- | del | 0.700 | 0 |