Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs137852986 | 0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 | 13 | |
rs4968451 | 0.732 | 0.160 | 17 | 61849946 | intron variant | A/C | snv | 0.15 | 13 | ||
rs4986764 | 0.827 | 0.120 | 17 | 61685986 | missense variant | A/G | snv | 0.60 | 0.61 | 8 | |
rs6504074 | 0.882 | 0.120 | 17 | 61822429 | intron variant | G/A;T | snv | 6 | |||
rs7213430 | 0.851 | 0.080 | 17 | 61682813 | 3 prime UTR variant | G/A | snv | 0.61 | 6 | ||
rs1057519365 | 0.851 | 0.320 | 17 | 61780931 | frameshift variant | TT/- | delins | 5 | |||
rs2048718 | 0.827 | 0.120 | 17 | 61863458 | 5 prime UTR variant | C/T | snv | 0.42 | 5 | ||
rs587778134 | 0.851 | 0.320 | 17 | 61776459 | frameshift variant | AA/-;AAAA | delins | 5 | |||
rs1057517648 | 0.882 | 0.280 | 17 | 61859795 | splice donor variant | C/- | delins | 4 | |||
rs11871753 | 0.851 | 0.120 | 17 | 61779284 | intron variant | A/G | snv | 0.75 | 4 | ||
rs1555603638 | 0.882 | 0.280 | 17 | 61784425 | splice acceptor variant | C/T | snv | 4 | |||
rs1555609191 | 0.882 | 0.280 | 17 | 61808545 | frameshift variant | A/- | del | 4 | |||
rs1555616143 | 0.882 | 0.280 | 17 | 61849155 | frameshift variant | TTCTT/- | delins | 4 | |||
rs16945628 | 0.851 | 0.120 | 17 | 61789868 | intron variant | T/C | snv | 0.60 | 4 | ||
rs368796923 | 0.882 | 0.280 | 17 | 61799200 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 4 | |
rs4988344 | 0.882 | 0.120 | 17 | 61847251 | intron variant | G/C | snv | 0.20 | 0.15 | 4 | |
rs575595017 | 0.882 | 0.280 | 17 | 61859808 | stop gained | G/A | snv | 1.2E-05 | 4 | ||
rs587780226 | 0.882 | 0.280 | 17 | 61799125 | stop gained | G/A;T | snv | 1.2E-05 | 4 | ||
rs587780228 | 0.882 | 0.280 | 17 | 61793698 | stop gained | C/A;G | snv | 4.0E-06 | 2.8E-05 | 4 | |
rs587780236 | 0.882 | 0.280 | 17 | 61743118 | frameshift variant | -/A | delins | 8.0E-06 | 7.0E-06 | 4 | |
rs587781292 | 0.882 | 0.280 | 17 | 61859868 | stop gained | C/A;T | snv | 4.0E-06 | 4 | ||
rs587781321 | 0.882 | 0.280 | 17 | 61780325 | stop gained | G/A;T | snv | 1.6E-05; 2.0E-05 | 4 | ||
rs587781985 | 0.882 | 0.280 | 17 | 61780342 | frameshift variant | -/C | ins | 4.0E-06 | 4 | ||
rs587782410 | 0.882 | 0.280 | 17 | 61685976 | stop gained | A/C | snv | 1.2E-05 | 1.4E-05 | 4 | |
rs587782574 | 0.882 | 0.280 | 17 | 61743015 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 4 |