Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs781214034 | 0.790 | 0.320 | 13 | 77903538 | missense variant | C/T | snv | 1.3E-04 | 2.8E-05 | 8 | |
rs768126403 | 1.000 | 0.080 | 13 | 77918517 | stop gained | G/A;T | snv | 4 | |||
rs104894391 | 0.925 | 0.080 | 13 | 77903356 | stop gained | G/A;T | snv | 4.0E-06 | 2 | ||
rs104894387 | 0.882 | 0.080 | 13 | 77901181 | missense variant | C/A | snv | 2.8E-05 | 2 | ||
rs104894390 | 1.000 | 0.080 | 13 | 77903200 | stop gained | G/A;T | snv | 1.2E-05 | 1 | ||
rs1458799604 | 1.000 | 0.080 | 13 | 77903570 | frameshift variant | C/- | del | 4.0E-06 | 1 | ||
rs1555290659 | 1.000 | 0.080 | 13 | 77903541 | missense variant | A/G | snv | 1 | |||
rs104894388 | 1.000 | 0.080 | 13 | 77903543 | missense variant | G/C | snv | 1 |