Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs74315511 | 0.925 | 0.240 | 22 | 50523994 | missense variant | C/T | snv | 8.0E-05 | 1.1E-04 | 4 | |
rs74315510 | 0.925 | 0.240 | 22 | 50524255 | stop gained | G/A | snv | 8.4E-05 | 3.5E-05 | 2 | |
rs74315512 | 1.000 | 0.200 | 22 | 50524144 | stop gained | G/A | snv | 1.6E-05 | 1 | ||
rs121908508 | 1.000 | 0.200 | 22 | 50524305 | stop gained | C/A;T | snv | 1 | |||
rs28937598 | 1.000 | 0.200 | 22 | 50523901 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs28937868 | 1.000 | 0.200 | 22 | 50524014 | missense variant | C/T | snv | 1 | |||
rs80358232 | 1.000 | 0.200 | 22 | 50523738 | missense variant | G/A;T | snv | 4.0E-06 | 1 |