Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121918222 | 0.882 | 0.080 | 20 | 18510875 | missense variant | C/T | snv | 2.3E-04 | 1.7E-04 | 3 | |
rs111241405 | 0.925 | 0.120 | 2 | 238164165 | missense variant | G/T | snv | 4.7E-02 | 1.6E-02 | 2 | |
rs121918221 | 0.925 | 0.080 | 20 | 18515695 | missense variant | G/A | snv | 2.3E-04 | 2.3E-04 | 2 | |
rs1555789463 | 0.925 | 0.080 | 20 | 18535747 | splice region variant | G/A | snv | 2 | |||
rs1568606490 | 0.925 | 0.080 | 20 | 18525913 | frameshift variant | T/- | delins | 2 | |||
rs1568617456 | 0.925 | 0.240 | 20 | 18542398 | stop gained | C/T | snv | 2 | |||
rs398124226 | 0.925 | 0.080 | 20 | 18525021 | splice donor variant | G/A;C | snv | 2.4E-05; 8.0E-06 | 2 | ||
rs121918223 | 1.000 | 0.080 | 20 | 18543095 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 1 | |
rs121918224 | 1.000 | 0.080 | 20 | 18525888 | stop gained | C/T | snv | 1.6E-05 | 2.8E-05 | 1 | |
rs121918225 | 1.000 | 0.080 | 20 | 18526508 | stop gained | C/T | snv | 3.6E-05 | 3.5E-05 | 1 | |
rs121918226 | 1.000 | 0.080 | 20 | 18524980 | stop gained | C/T | snv | 5.2E-05 | 1.3E-04 | 1 | |
rs1555788144 | 1.000 | 0.080 | 20 | 18524642 | frameshift variant | CAAGGATT/A | delins | 1 | |||
rs201270568 | 1.000 | 0.080 | 20 | 18554343 | missense variant | C/T | snv | 4.8E-05 | 4.9E-05 | 1 | |
rs727504145 | 1.000 | 0.080 | 20 | 18542380 | missense variant | C/T | snv | 1.6E-05 | 4.2E-05 | 1 |