Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104894360 | 0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv | 14 | |||
rs1057517542 | 1.000 | 0.080 | 16 | 68829653 | splice acceptor variant | G/A | snv | 2 | |||
rs1060501214 | 1.000 | 0.080 | 16 | 68810201 | frameshift variant | TC/- | delins | 1 | |||
rs1060501215 | 1.000 | 0.080 | 16 | 68801878 | frameshift variant | C/- | delins | 1 | |||
rs1060501224 | 1.000 | 0.080 | 16 | 68822180 | frameshift variant | AC/- | delins | 1 | |||
rs1060501226 | 1.000 | 0.080 | 16 | 68738295 | splice acceptor variant | A/G | snv | 1 | |||
rs1060501237 | 1.000 | 0.080 | 16 | 68811861 | splice donor variant | T/C | snv | 1 | |||
rs1060501244 | 1.000 | 0.080 | 16 | 68828204 | missense variant | G/A;T | snv | 8.0E-06 | 2 | ||
rs1060501248 | 1.000 | 0.080 | 16 | 68829679 | frameshift variant | G/- | delins | 1 | |||
rs1064794231 | 1.000 | 0.080 | 16 | 68810240 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
rs1064795267 | 1.000 | 0.080 | 16 | 68815760 | splice donor variant | G/- | del | 1 | |||
rs1064795703 | 1.000 | 0.080 | 16 | 68801820 | frameshift variant | C/- | delins | 1 | |||
rs1131690808 | 1.000 | 0.080 | 16 | 68808568 | splice donor variant | G/A;T | snv | 2 | |||
rs1131690810 | 1.000 | 0.080 | 16 | 68815725 | stop gained | C/T | snv | 2 | |||
rs1131690815 | 1.000 | 0.080 | 16 | 68808483 | frameshift variant | CAGAAGA/-;CAGAAGACAGAAGA | delins | 2 | |||
rs1131690819 | 1.000 | 0.080 | 16 | 68810229 | frameshift variant | T/- | del | 2 | |||
rs113583899 | 1.000 | 0.080 | 16 | 68819279 | splice acceptor variant | G/C | snv | 7.0E-06 | 2 | ||
rs121964873 | 0.925 | 0.080 | 16 | 68810290 | stop gained | G/A;T | snv | 1.2E-05 | 2 | ||
rs121964874 | 1.000 | 0.080 | 16 | 68823557 | stop gained | C/A;G;T | snv | 4.0E-06 | 1 | ||
rs121964875 | 1.000 | 0.080 | 16 | 68738307 | stop gained | G/A | snv | 1 | |||
rs121964876 | 1.000 | 0.080 | 16 | 68738318 | stop gained | G/T | snv | 1 | |||
rs121964877 | 0.851 | 0.160 | 16 | 68822081 | stop gained | C/G;T | snv | 2 | |||
rs121964878 | 1.000 | 0.080 | 16 | 68822190 | missense variant | C/T | snv | 1 | |||
rs1375617541 | 1.000 | 0.080 | 16 | 68829739 | frameshift variant | -/C | delins | 4.0E-06 | 1 | ||
rs1385720097 | 1.000 | 0.080 | 16 | 68828173 | splice acceptor variant | G/C;T | snv | 2 |