Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs953038635 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 51 | ||
rs920778 | 0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 | 36 | ||
rs886039920 | 0.807 | 0.160 | 17 | 43115755 | frameshift variant | ACAGG/- | delins | 7 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs874945 | 0.732 | 0.240 | 12 | 53961667 | upstream gene variant | C/T | snv | 0.38 | 14 | ||
rs869312774 | 0.925 | 0.160 | 16 | 23614019 | frameshift variant | T/- | delins | 3 | |||
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 104 | |
rs851797 | 0.752 | 0.240 | 1 | 241889740 | 3 prime UTR variant | A/G | snv | 0.72 | 13 | ||
rs8170 | 0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 | 13 | |
rs80359078 | 0.882 | 0.160 | 13 | 32370430 | missense variant | G/A | snv | 3.2E-05 | 2.1E-05 | 3 | |
rs80358981 | 0.827 | 0.200 | 13 | 32356550 | stop gained | C/T | snv | 2.0E-05 | 1.4E-05 | 7 | |
rs80358721 | 0.724 | 0.320 | 13 | 32339320 | stop gained | C/A;G;R | snv | 4.2E-06 | 14 | ||
rs80357796 | 0.752 | 0.240 | 17 | 43094464 | frameshift variant | T/- | del | 11 | |||
rs80357750 | 0.790 | 0.200 | 17 | 43115759 | frameshift variant | G/- | delins | 8 | |||
rs80357474 | 0.827 | 0.200 | 17 | 43049188 | missense variant | A/C;G;T | snv | 8.0E-06 | 5 | ||
rs80357438 | 0.851 | 0.200 | 17 | 43124032 | stop gained | A/G;T | snv | 5 | |||
rs80357138 | 0.763 | 0.200 | 17 | 43094776 | missense variant | C/T | snv | 8.0E-06 | 9 | ||
rs80356952 | 0.790 | 0.200 | 17 | 43093901 | stop gained | G/A | snv | 9 | |||
rs80356898 | 0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 11 | ||
rs80356897 | 0.827 | 0.160 | 17 | 43099853 | missense variant | A/G | snv | 5 | |||
rs786203319 | 0.827 | 0.160 | 17 | 43115759 | missense variant | G/A | snv | 6 | |||
rs764918809 | 0.827 | 0.160 | 12 | 68839337 | missense variant | T/C | snv | 4.0E-06 | 6 | ||
rs752742313 | 0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 | 36 | ||
rs750042441 | 0.827 | 0.160 | 11 | 101128367 | missense variant | G/A;C | snv | 6.1E-05; 4.3E-06 | 5 | ||
rs748876625 | 0.807 | 0.160 | 17 | 43104122 | missense variant | C/A;G | snv | 1.2E-05 | 10 |