Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs267607277 | 0.807 | 0.120 | 14 | 90404386 | missense variant | A/G | snv | 6 | |||
rs267607276 | 0.925 | 0.080 | 14 | 90401385 | missense variant | A/G;T | snv | 2 | |||
rs398124647 | 0.807 | 0.120 | 2 | 47161851 | missense variant | T/A;C | snv | 6 | |||
rs11551437 | 1.000 | 0.080 | 2 | 47161833 | missense variant | G/A | snv | 3 | |||
rs398124650 | 0.882 | 0.120 | 2 | 47161744 | missense variant | C/G;T | snv | 3 | |||
rs398124648 | 0.925 | 0.080 | 2 | 47161748 | missense variant | A/C | snv | 2 | |||
rs398124649 | 0.925 | 0.080 | 2 | 47161737 | missense variant | T/G | snv | 2 | |||
rs749547712 | 0.882 | 0.080 | 1 | 115768444 | missense variant | C/T | snv | 1.2E-05 | 3 | ||
rs121434549 | 0.925 | 0.080 | 1 | 115705212 | missense variant | C/G;T | snv | 8.0E-06 | 2 | ||
rs121434550 | 0.925 | 0.080 | 1 | 115738256 | missense variant | A/T | snv | 2 | |||
rs886039816 | 0.925 | 0.080 | 1 | 115732968 | missense variant | T/C | snv | 2 | |||
rs1060502164 | 1.000 | 0.080 | 1 | 115744914 | splice acceptor variant | T/C | snv | 1 | |||
rs139228801 | 1.000 | 0.080 | 1 | 115705208 | missense variant | G/A;T | snv | 3.2E-05 | 1 | ||
rs146664754 | 1.000 | 0.080 | 1 | 115732940 | missense variant | G/C | snv | 7.2E-04 | 5.4E-04 | 1 | |
rs151115064 | 1.000 | 0.080 | 1 | 115725543 | missense variant | G/A | snv | 5.3E-05 | 7.9E-05 | 1 | |
rs397507555 | 1.000 | 0.080 | 1 | 115768480 | frameshift variant | T/- | del | 1 | |||
rs397507556 | 1.000 | 0.080 | 1 | 115768445 | stop gained | G/A;T | snv | 4.0E-06; 1.6E-05 | 1 | ||
rs397516643 | 1.000 | 0.080 | 1 | 115732927 | frameshift variant | TGA/GT | delins | 1 | |||
rs763955301 | 1.000 | 0.080 | 1 | 115732961 | frameshift variant | A/- | delins | 7.0E-06 | 1 | ||
rs876657635 | 1.000 | 0.080 | 1 | 115702996 | splice acceptor variant | C/A | snv | 1 | |||
rs199473368 | 1.000 | 0.080 | 17 | 70175239 | missense variant | G/A | snv | 1 | |||
rs199473657 | 1.000 | 0.080 | 17 | 70175718 | missense variant | G/T | snv | 1 | |||
rs765542241 | 1.000 | 0.080 | 7 | 92234838 | missense variant | T/C | snv | 6.4E-05 | 1.4E-05 | 1 | |
rs768049331 | 0.925 | 0.080 | 6 | 123571099 | frameshift variant | GTCT/- | delins | 2.8E-05 | 2.2E-04 | 2 | |
rs1554258777 | 1.000 | 0.080 | 6 | 123570921 | splice donor variant | A/T | snv | 1 |