Source: ALL
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 | 17 | 4902311 | stop gained | G/A;C | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 17 | 4901944 | missense variant | G/A;C | snv | 2.7E-04; 3.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 17 | 4899000 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 4902707 | missense variant | A/G | snv | 6.4E-04 | 6.4E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 17 | 4899318 | frameshift variant | AGGCGGCCCGGGGGGCCTC/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 110668985 | splice donor variant | T/G | snv | 4.0E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 9 | 110695418 | missense variant | G/A;T | snv | 8.5E-05; 4.9E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 17 | 4903159 | intron variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 17 | 4901172 | frameshift variant | TGGCCCA/- | delins | 3.7E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 17 | 4898864 | frameshift variant | -/C | delins | 1.5E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 17 | 4902216 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 4899470 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 4899529 | frameshift variant | A/- | del | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 17 | 4901641 | 3 prime UTR variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 4899255 | frameshift variant | -/A | ins | 4.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 17 | 4901932 | missense variant | C/A | snv | 7.0E-06 | 0.800 | 1.000 | 1 | 1997 | 1997 | ||||
|
1 | 1.000 | 0.080 | 17 | 4899509 | missense variant | G/A;T | snv | 4.3E-06; 6.1E-05 | 0.800 | 1.000 | 1 | 1997 | 1997 | ||||
|
2 | 0.925 | 0.080 | 17 | 4900998 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 1997 | 1997 | ||||
|
2 | 0.925 | 0.080 | 17 | 4898891 | splice acceptor variant | C/- | delins | 1.3E-04 | 7.0E-06 | 0.700 | 1.000 | 2 | 1998 | 1999 | |||
|
1 | 1.000 | 0.080 | 17 | 4899386 | splice acceptor variant | T/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
6 | 0.827 | 0.120 | 11 | 47448079 | missense variant | G/T | snv | 1.6E-03 | 1.5E-03 | 0.700 | 1.000 | 13 | 2002 | 2011 |