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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.080 | 1 | 197435170 | missense variant | G/A | snv | 2.8E-05 | 3.5E-05 | 0.710 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.882 | 0.080 | 1 | 197328961 | frameshift variant | ATAGGAA/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.080 | 1 | 197421404 | stop gained | C/T | snv | 3.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 1 | 197427555 | stop gained | C/A;G;T | snv | 5.6E-04; 8.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 1 | 197427543 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 1 | 197477775 | frameshift variant | CAACTCAGGG/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 1 | 197427880 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.040 | 1 | 197429614 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.080 | 1 | 197434706 | missense variant | G/A | snv | 2.1E-04 | 2.2E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.040 | 1 | 197442236 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 1 | 197442278 | missense variant | C/T | snv | 2.0E-05 | 0.010 | < 0.001 | 1 | 2014 | 2014 |