Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs374045590 | 0.827 | 0.080 | 19 | 11129598 | missense variant | C/A;G | snv | 4.0E-06; 8.0E-06 | 7 | ||
rs879254382 | 0.882 | 0.080 | 19 | 11089549 | start lost | A/C;G;T | snv | 3 | |||
rs1019504966 | 1.000 | 0.040 | 1 | 25543699 | start lost | A/G | snv | 1.4E-05 | 1 | ||
rs1201229554 | 1.000 | 0.040 | 1 | 25543763 | frameshift variant | G/- | delins | 7.0E-06 | 1 | ||
rs121908324 | 1.000 | 0.040 | 1 | 25543763 | stop gained | G/A;C;T | snv | 1 | |||
rs121908325 | 1.000 | 0.040 | 1 | 25557214 | stop gained | C/T | snv | 7.0E-06 | 1 | ||
rs386629678 | 1.000 | 0.040 | 1 | 25563141 | missense variant | TC/CA | mnv | 1 | |||
rs755104973 | 1.000 | 0.040 | 1 | 25553921 | splice acceptor variant | G/C | snv | 4.0E-06 | 1 | ||
rs781585299 | 1.000 | 0.040 | 1 | 25563135 | frameshift variant | -/C;CC | delins | 1.4E-05 | 1 |