Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs5051 | 0.882 | 0.160 | 1 | 230714126 | intron variant | C/A;G;T | snv | 5 | |||
rs3813865 | 1.000 | 0.040 | 10 | 133525740 | intron variant | G/C | snv | 6.9E-02 | 1 | ||
rs4762 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 35 | |
rs1004467 | 0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 | 13 | |
rs12619696 | 1.000 | 0.040 | 2 | 46463303 | intron variant | G/A | snv | 0.15 | 1 | ||
rs3749148 | 1.000 | 0.040 | 2 | 172465821 | splice region variant | T/G | snv | 0.16 | 1 | ||
rs4953354 | 0.827 | 0.120 | 2 | 46348249 | intron variant | A/G | snv | 0.22 | 5 | ||
rs141267844 | 1.000 | 0.040 | 2 | 211430865 | intron variant | -/T | delins | 0.32 | 1 | ||
rs1868092 | 1.000 | 0.040 | 2 | 46387063 | downstream gene variant | G/A | snv | 0.34 | 4 | ||
rs2478523 | 1.000 | 0.040 | 1 | 230705763 | intron variant | A/G | snv | 0.50 | 1 | ||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs934607 | 1.000 | 0.040 | 2 | 211388084 | intron variant | G/A | snv | 0.63 | 1 | ||
rs6710946 | 1.000 | 0.040 | 2 | 211431150 | intron variant | C/T | snv | 0.73 | 0.78 | 1 |