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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.200 | 11 | 108309110 | intron variant | A/G | snv | 2.4E-05 | 4.2E-05 | 0.700 | 1.000 | 7 | 1996 | 2017 | |||
|
2 | 1.000 | 0.200 | 11 | 108310158 | splice acceptor variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 1998 | 2012 | ||||
|
1 | 11 | 108310161 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 108310168 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2000 | 2015 | |||||||
|
1 | 11 | 108310176 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 1.000 | 0.200 | 11 | 108310188 | frameshift variant | G/CCT | delins | 0.700 | 1.000 | 3 | 1999 | 2018 | |||||
|
1 | 11 | 108310188 | frameshift variant | GCT/CCTC | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.200 | 11 | 108310195 | stop gained | G/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 11 | 108310218 | missense variant | G/C | snv | 1.3E-04 | 1.8E-04 | 0.700 | 0 | ||||||
|
1 | 11 | 108310250 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||||
|
1 | 11 | 108310255 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 1.000 | 0.200 | 11 | 108310266 | frameshift variant | AT/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 11 | 108310287 | stop gained | A/G;T | snv | 1.0E-04 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 11 | 108310287 | frameshift variant | AAAAG/- | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 108310290 | frameshift variant | -/AAAGTAT | delins | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.280 | 11 | 108310305 | stop gained | C/T | snv | 3.2E-05 | 2.0E-04 | 0.700 | 1.000 | 4 | 1998 | 2015 | |||
|
2 | 1.000 | 0.200 | 11 | 108310306 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
2 | 1.000 | 0.200 | 11 | 108312409 | splice acceptor variant | A/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.280 | 11 | 108312424 | stop gained | G/T | snv | 4.4E-05 | 3.5E-05 | 0.700 | 1.000 | 19 | 1998 | 2018 | |||
|
1 | 11 | 108312427 | stop gained | G/T | snv | 0.700 | 0 | ||||||||||
|
1 | 11 | 108312448 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.200 | 11 | 108312463 | stop gained | G/A;T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 1999 | 2015 | |||
|
2 | 1.000 | 0.200 | 11 | 108312467 | frameshift variant | TAAAG/- | delins | 0.700 | 1.000 | 4 | 1996 | 2006 | |||||
|
2 | 1.000 | 0.200 | 11 | 108312472 | frameshift variant | A/-;AA | delins | 0.700 | 0 | ||||||||
|
1 | 11 | 108312472 | stop gained | A/T | snv | 0.700 | 0 |