| 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 | 0.882 | 0.080 | 7 | 100633515 | missense variant | A/T | snv | 8.3E-06 | 0.810 | 1.000 | 4 | 2001 | 2003 | ||||
|
1 | 1.000 | 0.080 | 7 | 100641198 | missense variant | C/T | snv | 7.8E-05 | 1.3E-04 | 0.800 | 1.000 | 3 | 2001 | 2003 | |||
|
1 | 1.000 | 0.080 | 7 | 100626830 | missense variant | T/C;G | snv | 0.800 | 1.000 | 3 | 2001 | 2003 | |||||
|
12 | 0.732 | 0.360 | 7 | 100633100 | stop gained | G/C | snv | 7.0E-06 | 0.730 | 1.000 | 3 | 2001 | 2006 | ||||
|
1 | 1.000 | 0.080 | 7 | 100641173 | frameshift variant | -/G | delins | 7.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 7 | 100640846 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 7 | 100632099 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 7 | 100630973 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 7 | 100630922 | inframe deletion | TTG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 7 | 100629313 | missense variant | C/T | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 7 | 100628228 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 7 | 100627761 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 7 | 100627387 | inframe insertion | CTGGGCCACGGC/-;CTGGGCCACGGCCTGGGCCACGGC | delins | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 7 | 100621127 | splice acceptor variant | C/T | snv | 7.7E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.080 | 7 | 100620889 | missense variant | C/T | snv | 4.8E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
12 | 0.732 | 0.360 | 6 | 26094205 | stop gained | C/A;T | snv | 1.4E-03 | 0.030 | 1.000 | 3 | 2001 | 2006 | ||||
|
12 | 0.732 | 0.360 | 6 | 26092860 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.030 | 1.000 | 3 | 2001 | 2006 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
32 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
5 | 0.827 | 0.200 | 7 | 100641071 | missense variant | G/A;C | snv | 4.2E-06; 8.3E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 |