Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 | ||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 | |||
rs1024611 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 63 | ||
rs3918242 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 54 | ||
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs2295080 | 0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv | 20 | |||
rs2276109 | 0.701 | 0.440 | 11 | 102875061 | upstream gene variant | T/C | snv | 9.2E-02 | 18 | ||
rs874945 | 0.732 | 0.240 | 12 | 53961667 | upstream gene variant | C/T | snv | 0.38 | 14 | ||
rs61330082 | 0.732 | 0.320 | 7 | 106286419 | upstream gene variant | G/A | snv | 0.22 | 13 | ||
rs8179090 | 0.752 | 0.280 | 17 | 78925807 | upstream gene variant | C/G | snv | 1.6E-02 | 12 | ||
rs125701 | 0.790 | 0.160 | 3 | 9748794 | upstream gene variant | G/A | snv | 0.13 | 7 | ||
rs2498801 | 0.790 | 0.120 | 14 | 104769221 | upstream gene variant | T/C | snv | 0.41 | 7 | ||
rs3218373 | 0.827 | 0.120 | 7 | 152677078 | upstream gene variant | C/A | snv | 0.15 | 5 | ||
rs2664139 | 0.882 | 0.120 | 15 | 39580382 | upstream gene variant | T/C | snv | 0.41 | 3 | ||
rs7257330 | 0.882 | 0.120 | 19 | 29810916 | upstream gene variant | G/A | snv | 0.30 | 3 | ||
rs921142 | 0.882 | 0.120 | 8 | 41311757 | upstream gene variant | T/C | snv | 0.31 | 3 | ||
rs11466445 | 0.851 | 0.160 | 9 | 99105256 | inframe insertion | GCGGCGGCGGCGGCG/-;GCG;GCGGCG;GCGGCGGCG;GCGGCGGCGGCG;GCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCGGCG | delins | 5 | |||
rs140241283 | 0.882 | 0.120 | 1 | 11796249 | start lost | A/G;T | snv | 4.0E-06; 4.0E-06 | 3 | ||
rs603965 | 0.732 | 0.440 | 11 | 69648142 | splice region variant | G/A | snv | 14 | |||
rs1799794 | 0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 | 12 | ||
rs11685387 | 0.776 | 0.240 | 2 | 216109091 | splice region variant | C/T | snv | 0.30 | 9 | ||
rs41277434 | 0.851 | 0.160 | 7 | 148809304 | splice region variant | A/C;G | snv | 6.8E-02; 8.0E-06 | 6 | ||
rs1805377 | 0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 | 19 | |
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 |