| 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 | 0.160 | 13 | 108209863 | missense variant | C/T | snv | 0.810 | 1.000 | 2 | 2001 | 2004 | |||||
|
4 | 0.882 | 0.200 | 13 | 108210436 | missense variant | C/A;T | snv | 1.2E-05 | 0.810 | 1.000 | 2 | 2001 | 2010 | ||||
|
1 | 1.000 | 0.160 | 13 | 108209531 | stop gained | G/A;C | snv | 8.0E-06 | 0.710 | 1.000 | 1 | 2004 | 2004 | ||||
|
8 | 0.807 | 0.360 | 13 | 108208829 | stop gained | G/A | snv | 9.9E-05 | 7.0E-05 | 0.700 | 1.000 | 8 | 2001 | 2016 | |||
|
2 | 0.925 | 0.160 | 13 | 108210656 | frameshift variant | A/- | delins | 5.6E-05 | 5.6E-05 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.160 | 13 | 108209365 | frameshift variant | T/- | delins | 3.7E-04 | 0.700 | 1.000 | 4 | 2001 | 2016 | ||||
|
1 | 1.000 | 0.160 | 13 | 108210469 | frameshift variant | CT/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.160 | 13 | 108209957 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.160 | 13 | 108208948 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 108209969 | inframe deletion | GTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 108210386 | frameshift variant | ATTTC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 108209994 | frameshift variant | CTTTT/- | delins | 1.6E-04 | 2.6E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 13 | 108210406 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 |