Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs113994205 | 0.827 | 0.160 | 17 | 3655305 | stop gained | G/A | snv | 4.8E-05 | 9.8E-05 | 5 | |
rs113994207 | 0.851 | 0.160 | 17 | 3656703 | missense variant | G/A | snv | 5.6E-05 | 4.2E-05 | 4 | |
rs746307931 | 0.851 | 0.160 | 17 | 3659927 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 4 | |
rs759623796 | 0.851 | 0.160 | 17 | 3658082 | frameshift variant | GGGAGTGACCACGTGGCTGCAGT/- | delins | 2.8E-05 | 4 | ||
rs113994211 | 0.851 | 0.160 | 17 | 3656573 | splice donor variant | AAGGTACGGCCTTGCCTGCCCTACATC/- | delins | 4 | |||
rs786204501 | 0.851 | 0.160 | 17 | 3640222 | frameshift variant | GACT/- | delins | 4.9E-05 | 4 | ||
rs375952052 | 0.882 | 0.160 | 17 | 3660224 | intron variant | G/A;C | snv | 2.0E-05; 4.0E-06 | 3 | ||
rs267606754 | 0.882 | 0.160 | 17 | 3655307 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 3 | |
rs1436441738 | 0.882 | 0.160 | 17 | 3655313 | missense variant | C/T | snv | 4.0E-06 | 3 | ||
rs1555564051 | 0.882 | 0.160 | 17 | 3658074 | frameshift variant | ACCA/CG | delins | 3 | |||
rs893207601 | 0.882 | 0.160 | 17 | 3656759 | frameshift variant | -/A;AA | delins | 8.0E-06 | 3 | ||
rs879758262 | 0.882 | 0.160 | 17 | 3648912 | frameshift variant | TCCTT/- | del | 3 | |||
rs121908128 | 1.000 | 0.160 | 17 | 3659974 | missense variant | C/G;T | snv | 1.2E-05; 2.4E-04 | 1 |