Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs143009528 | 0.925 | 0.120 | 3 | 37025734 | missense variant | A/C;G;T | snv | 3.2E-05; 4.8E-05; 8.0E-06 | 1 | ||
rs121913224 | 0.742 | 0.200 | 5 | 112839515 | frameshift variant | AAAGA/- | delins | 13 | |||
rs387906234 | 0.827 | 0.120 | 5 | 112839979 | frameshift variant | AGAG/-;AG | delins | 7 | |||
rs137854567 | 0.882 | 0.120 | 5 | 112819272 | missense variant | C/A;G;T | snv | 4.0E-06; 6.7E-04 | 2 | ||
rs121913333 | 0.882 | 0.120 | 5 | 112838220 | stop gained | C/A;T | snv | 4 | |||
rs137854583 | 1.000 | 0.120 | 5 | 112780880 | stop gained | C/A;T | snv | 2 | |||
rs137854570 | 1.000 | 0.120 | 5 | 112837732 | stop gained | C/G | snv | 2 | |||
rs137854580 | 0.827 | 0.120 | 5 | 112827194 | stop gained | C/G;T | snv | 2.8E-05 | 4 | ||
rs137854569 | 0.882 | 0.120 | 5 | 112815499 | stop gained | C/G;T | snv | 3 | |||
rs137854568 | 0.882 | 0.120 | 5 | 112815564 | stop gained | C/T | snv | 5 | |||
rs758987855 | 0.925 | 0.120 | 5 | 112840581 | stop gained | G/A;T | snv | 1 | |||
rs387906236 | 0.925 | 0.120 | 5 | 112840205 | frameshift variant | GA/- | delins | 2 | |||
rs137854582 | 0.925 | 0.120 | 5 | 112837687 | stop gained | T/A;G | snv | 2 |