Source: BEFREE
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs180177111 | 0.925 | 0.080 | 16 | 23629831 | stop gained | G/A | snv | 4.0E-06 | 5 | ||
rs180177132 | 0.790 | 0.280 | 16 | 23621362 | stop gained | C/T | snv | 6.0E-05 | 2.1E-05 | 5 | |
rs778345761 | 0.925 | 0.080 | 16 | 23614091 | stop gained | C/T | snv | 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 | |||
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 | ||
rs13330119 | 0.925 | 0.080 | 16 | 23618750 | intron variant | C/T | snv | 0.18 | 2 | ||
rs1488792693 | 0.925 | 0.080 | 16 | 23636036 | frameshift variant | CT/- | delins | 2 | |||
rs16940342 | 0.925 | 0.080 | 16 | 23633265 | intron variant | A/C;G;T | snv | 2 | |||
rs180177097 | 0.882 | 0.080 | 16 | 23635519 | stop gained | G/A | snv | 2 | |||
rs180177110 | 0.882 | 0.200 | 16 | 23629897 | stop gained | G/A;T | snv | 2.4E-05 | 2 | ||
rs180177143 | 0.882 | 0.080 | 16 | 23637886 | frameshift variant | ACAA/- | delins | 4.0E-05 | 3.5E-05 | 2 | |
rs447529 | 0.925 | 0.080 | 16 | 23622102 | intron variant | C/G | snv | 0.13 | 2 | ||
rs515726123 | 0.882 | 0.080 | 16 | 23636036 | frameshift variant | CT/- | delins | 1.4E-05 | 2 | ||
rs515726124 | 0.925 | 0.080 | 16 | 23636036 | frameshift variant | CT/- | delins | 2 | |||
rs57605939 | 0.925 | 0.080 | 16 | 23635917 | missense variant | G/A | snv | 4.8E-03 | 2.1E-02 | 2 | |
rs760094988 | 0.925 | 0.080 | 16 | 23630235 | stop gained | G/C;T | snv | 4.0E-06 | 2 | ||
rs8053188 | 0.925 | 0.080 | 16 | 23641204 | 5 prime UTR variant | C/T | snv | 4.0E-02 | 5.0E-02 | 2 |