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 | 0.080 | 6 | 31117440 | stop gained | T/A | snv | 6.1E-06 | 4.2E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 6 | 31117447 | frameshift variant | -/CAGG | delins | 3.1E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 6 | 31117191 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 15 | 43253550 | frameshift variant | G/- | del | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 31116869 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 19 | 33772017 | missense variant | C/A;T | snv | 6.5E-05; 4.0E-03 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
10 | 0.752 | 0.440 | 7 | 74711703 | intron variant | C/T | snv | 1.3E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.200 | 3 | 29402923 | intron variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.200 | 3 | 29404440 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
36 | 0.633 | 0.720 | 4 | 153704257 | synonymous variant | T/C | snv | 9.0E-02 | 6.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.200 | 4 | 153705028 | synonymous variant | T/C | snv | 1.4E-02 | 5.1E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 |