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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.120 | 10 | 119676917 | missense variant | G/A | snv | 0.800 | 1.000 | 5 | 1990 | 2014 | |||||
|
1 | 1.000 | 10 | 119669881 | missense variant | C/T | snv | 1.4E-04 | 7.7E-05 | 0.800 | 1.000 | 3 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 10 | 119676984 | missense variant | G/A | snv | 0.800 | 1.000 | 3 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.040 | 10 | 119676939 | missense variant | T/C | snv | 0.800 | 1.000 | 3 | 2011 | 2011 | |||||
|
11 | 0.776 | 0.160 | 10 | 119672373 | missense variant | C/A;T | snv | 0.700 | 1.000 | 11 | 2009 | 2016 | |||||
|
1 | 1.000 | 10 | 119672399 | missense variant | C/T | snv | 8.4E-05 | 4.2E-05 | 0.700 | 1.000 | 3 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 10 | 119669938 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.080 | 10 | 119670037 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.120 | 10 | 119676479 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 10 | 119676899 | stop gained | A/G;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 10 | 119672416 | frameshift variant | -/T | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 10 | 119676794 | stop gained | G/A;T | snv | 3.5E-04 | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 10 | 119669932 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 10 | 119672353 | frameshift variant | -/C | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 10 | 119676710 | frameshift variant | -/C | delins | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.080 | 10 | 119651821 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 10 | 119669946 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 10 | 119672284 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 10 | 119676617 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.080 | 10 | 119672477 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 10 | 119672446 | stop gained | C/A | snv | 0.700 | 0 |