Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs180177135 | 0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 | 27 | ||
rs118203998 | 0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 | 11 | ||
rs180177132 | 0.790 | 0.280 | 16 | 23621362 | stop gained | C/T | snv | 6.0E-05 | 2.1E-05 | 11 | |
rs180177133 | 0.807 | 0.240 | 16 | 23614089 | frameshift variant | T/- | delins | 1.2E-05 | 1.4E-05 | 9 | |
rs180177111 | 0.925 | 0.080 | 16 | 23629831 | stop gained | G/A | snv | 4.0E-06 | 7 | ||
rs180177100 | 0.827 | 0.400 | 16 | 23635306 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 | 6 | |
rs180177092 | 0.851 | 0.280 | 16 | 23635788 | frameshift variant | AG/- | delins | 5 | |||
rs180177097 | 0.882 | 0.080 | 16 | 23635519 | stop gained | G/A | snv | 5 | |||
rs587776416 | 0.882 | 0.240 | 16 | 23629986 | frameshift variant | AT/- | del | 6.4E-05 | 2.1E-05 | 5 | |
rs778345761 | 0.925 | 0.080 | 16 | 23614091 | stop gained | C/T | snv | 5 | |||
rs118203999 | 0.925 | 0.200 | 16 | 23623003 | stop gained | G/A | snv | 4 | |||
rs180177110 | 0.882 | 0.200 | 16 | 23629897 | stop gained | G/A;T | snv | 2.4E-05 | 4 | ||
rs180177143 | 0.882 | 0.080 | 16 | 23637886 | frameshift variant | ACAA/- | delins | 4.0E-05 | 3.5E-05 | 4 | |
rs515726123 | 0.882 | 0.080 | 16 | 23636036 | frameshift variant | CT/- | delins | 1.4E-05 | 4 | ||
rs587776419 | 0.882 | 0.200 | 16 | 23624008 | splice donor variant | C/A;G;T | snv | 4 | |||
rs757369748 | 0.882 | 0.200 | 16 | 23638072 | stop gained | G/A;T | snv | 4.0E-06 | 4 | ||
rs879254154 | 0.851 | 0.160 | 16 | 23621428 | missense variant | A/C;G | snv | 4 | |||
rs141047069 | 0.925 | 0.080 | 16 | 23638074 | missense variant | A/G | snv | 3 | |||
rs1555460445 | 0.925 | 0.200 | 16 | 23629936 | stop gained | G/A | snv | 3 | |||
rs180177083 | 0.925 | 0.200 | 16 | 23637865 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 3 | ||
rs180177102 | 1.000 | 0.080 | 16 | 23634954 | frameshift variant | AA/-;A | delins | 1.8E-04 | 1.3E-04 | 3 | |
rs180177126 | 0.925 | 0.200 | 16 | 23623044 | frameshift variant | TT/- | delins | 3 | |||
rs180177142 | 0.925 | 0.080 | 16 | 23638106 | frameshift variant | C/- | del | 3 | |||
rs249935 | 0.925 | 0.080 | 16 | 23613903 | intron variant | T/C | snv | 0.13 | 3 | ||
rs249954 | 0.925 | 0.080 | 16 | 23629146 | intron variant | G/A | snv | 0.31 | 3 |