Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs114368325 | 0.925 | 0.120 | 20 | 54158136 | missense variant | G/A;C | snv | 6.6E-04; 8.0E-06 | 4 | ||
rs139763321 | 1.000 | 0.040 | 20 | 54172915 | missense variant | A/G | snv | 1.6E-04 | 1.3E-04 | 1 | |
rs387907322 | 1.000 | 0.040 | 20 | 54171644 | missense variant | C/G;T | snv | 1.6E-05; 2.8E-05 | 1 | ||
rs387907323 | 1.000 | 0.040 | 20 | 54171669 | stop gained | C/A | snv | 1 | |||
rs387907324 | 1.000 | 0.040 | 20 | 54162743 | missense variant | C/T | snv | 2.0E-05 | 3.5E-05 | 1 | |
rs6068812 | 1.000 | 0.040 | 20 | 54158096 | missense variant | A/G | snv | 7.5E-04 | 8.2E-04 | 1 | |
rs774432244 | 1.000 | 0.040 | 20 | 54173518 | frameshift variant | G/- | delins | 4.2E-05 | 1 | ||
rs777676129 | 1.000 | 0.040 | 20 | 54172928 | inframe deletion | CTT/- | delins | 5.2E-04 | 1 | ||
rs777947329 | 1.000 | 0.040 | 20 | 54159075 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs876657376 | 1.000 | 0.040 | 20 | 54157395 | frameshift variant | AG/- | delins | 4.0E-06 | 1 |