Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3088440 | 0.776 | 0.240 | 9 | 21968160 | 3 prime UTR variant | G/A | snv | 0.13 | 12 | ||
rs11515 | 0.882 | 0.040 | 9 | 21968200 | 3 prime UTR variant | C/A;G | snv | 4.0E-06; 0.88 | 6 | ||
rs1060501266 | 1.000 | 0.120 | 9 | 21968347 | intron variant | T/C | snv | 7.0E-06 | 1 | ||
rs1210653597 | 0.925 | 0.120 | 9 | 21968756 | missense variant | T/C | snv | 2 | |||
rs1390902532 | 1.000 | 0.040 | 9 | 21968766 | missense variant | T/C | snv | 7.4E-06 | 7.0E-06 | 2 | |
rs45476696 | 0.925 | 0.200 | 9 | 21970902 | stop gained | C/A;T | snv | 3 | |||
rs3731249 | 0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 | 23 | ||
rs116150891 | 1.000 | 0.040 | 9 | 21970929 | missense variant | G/A;C | snv | 5.6E-04 | 2.6E-03 | 1 | |
rs757497674 | 1.000 | 0.080 | 9 | 21970958 | missense variant | G/A | snv | 4.1E-06 | 1 | ||
rs1554653915 | 1.000 | 0.120 | 9 | 21970966 | splice donor variant | GCGCAGGTACCGT/CGCATC | delins | 1 | |||
rs755927351 | 1.000 | 0.040 | 9 | 21970968 | missense variant | G/A | snv | 4.1E-06 | 1 | ||
rs6413464 | 1.000 | 0.040 | 9 | 21970980 | missense variant | C/A;G | snv | 1.3E-03; 4.1E-06 | 2 | ||
rs104894098 | 0.851 | 0.200 | 9 | 21970982 | missense variant | A/T | snv | 5 | |||
rs747621669 | 9 | 21970988 | missense variant | C/T | snv | 4.1E-06 | 1 | ||||
rs6413463 | 1.000 | 0.040 | 9 | 21970990 | missense variant | A/G;T | snv | 2.9E-05; 3.0E-04 | 1 | ||
rs113798404 | 0.925 | 0.080 | 9 | 21970995 | missense variant | C/G;T | snv | 2 | |||
rs1563888944 | 1.000 | 0.120 | 9 | 21970998 | frameshift variant | -/TC | delins | 1 | |||
rs1060501263 | 1.000 | 0.120 | 9 | 21971001 | frameshift variant | C/- | delins | 2 | |||
rs1554653956 | 1.000 | 0.120 | 9 | 21971004 | frameshift variant | CCAGGTCCACGGGCAG/- | delins | 1 | |||
rs1554653960 | 0.925 | 0.040 | 9 | 21971007 | missense variant | C/T | snv | 2 | |||
rs1554653976 | 9 | 21971015 | frameshift variant | -/GGGC | delins | 1 | |||||
rs121913386 | 0.807 | 0.120 | 9 | 21971018 | missense variant | G/A;T | snv | 7 | |||
rs104894104 | 0.790 | 0.160 | 9 | 21971019 | missense variant | G/A;T | snv | 7 | |||
rs387906410 | 0.882 | 0.080 | 9 | 21971019 | missense variant | GC/AG | mnv | 4 | |||
rs575031539 | 0.925 | 0.080 | 9 | 21971020 | missense variant | C/G;T | snv | 4.2E-06 | 2 |