Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs193929348 | 0.882 | 0.120 | 11 | 17387548 | missense variant | T/C | snv | 3 | |||
rs779736828 | 0.925 | 0.120 | 11 | 17413396 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs1738248 | 1.000 | 0.120 | 6 | 38786848 | missense variant | C/T | snv | 6.8E-05 | 7.0E-06 | 1 | |
rs199589695 | 1.000 | 0.120 | 6 | 29673362 | missense variant | C/T | snv | 4.1E-05 | 7.0E-05 | 1 | |
rs606231121 | 1.000 | 0.120 | 6 | 29675420 | frameshift variant | TCTC/-;TC | delins | 1 | |||
rs606231123 | 1.000 | 0.120 | 6 | 29673206 | frameshift variant | GTGCCTGG/- | delins | 4.1E-06 | 1 | ||
rs61730328 | 1.000 | 0.120 | 6 | 29673328 | stop gained | G/A;T | snv | 3.6E-03 | 1 | ||
rs77625743 | 1.000 | 0.120 | 6 | 29673368 | missense variant | C/T | snv | 8.2E-06 | 1.4E-05 | 1 | |
rs78378398 | 1.000 | 0.120 | 6 | 29673282 | missense variant | G/A;T | snv | 1 | |||
rs606231122 | 1.000 | 0.120 | 6 | 29672728 | frameshift variant | G/- | del | 1 | |||
rs79020217 | 1.000 | 0.120 | 6 | 29672739 | missense variant | G/C | snv | 1 |