Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913224 | 0.742 | 0.200 | 5 | 112839515 | frameshift variant | AAAGA/- | delins | 13 | |||
rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 10 | |
rs137854575 | 0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 | 9 | ||
rs137854573 | 0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv | 8 | |||
rs786201856 | 0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv | 8 | |||
rs145945630 | 0.827 | 0.120 | 5 | 112754960 | stop gained | C/T | snv | 2.4E-05 | 7 | ||
rs387906234 | 0.827 | 0.120 | 5 | 112839979 | frameshift variant | AGAG/-;AG | delins | 7 | |||
rs397515734 | 0.827 | 0.120 | 5 | 112792494 | stop gained | C/T | snv | 7 | |||
rs587781392 | 0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv | 7 | |||
rs587783031 | 0.851 | 0.120 | 5 | 112840255 | frameshift variant | A/-;AA | delins | 7 | |||
rs62619935 | 0.807 | 0.120 | 5 | 112792446 | stop gained | C/G;T | snv | 4.0E-06 | 7 | ||
rs863225311 | 0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv | 7 | |||
rs876660765 | 0.851 | 0.120 | 5 | 112815594 | splice donor variant | G/A | snv | 6 | |||
rs121913331 | 0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 | 5 | ||
rs137854568 | 0.882 | 0.120 | 5 | 112815564 | stop gained | C/T | snv | 5 | |||
rs587779352 | 0.882 | 0.120 | 5 | 112838774 | frameshift variant | ACAAA/- | delins | 5 | |||
rs121913332 | 0.925 | 0.120 | 5 | 112839942 | stop gained | C/G;T | snv | 4.0E-06 | 4 | ||
rs121913333 | 0.882 | 0.120 | 5 | 112838220 | stop gained | C/A;T | snv | 4 | |||
rs137854572 | 0.882 | 0.120 | 5 | 112828001 | stop gained | C/T | snv | 4 | |||
rs137854580 | 0.827 | 0.120 | 5 | 112827194 | stop gained | C/G;T | snv | 2.8E-05 | 4 | ||
rs1019221239 | 0.925 | 0.120 | 5 | 112835093 | stop gained | T/A;C;G | snv | 4.0E-06 | 3 | ||
rs1060503323 | 0.925 | 0.120 | 5 | 112780782 | splice region variant | G/A | snv | 3 | |||
rs1060503333 | 0.925 | 0.120 | 5 | 112821953 | stop gained | C/A;G | snv | 3 | |||
rs1114167569 | 0.925 | 0.120 | 5 | 112835166 | splice donor variant | G/A | snv | 3 | |||
rs1114167594 | 0.925 | 0.120 | 5 | 112828885 | frameshift variant | T/- | delins | 3 |