Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1132358 | 1.000 | 0.040 | 16 | 1347814 | synonymous variant | C/T | snv | 0.44 | 0.39 | 3 | |
rs755246809 | 0.827 | 0.280 | 6 | 135404951 | frameshift variant | T/- | delins | 5.9E-04 | 4.9E-05 | 7 | |
rs525773 | 1.000 | 0.040 | 3 | 136217611 | intergenic variant | G/A | snv | 0.51 | 1 | ||
rs589092 | 1.000 | 0.040 | 3 | 136260856 | intron variant | A/G | snv | 0.43 | 1 | ||
rs480330 | 1.000 | 0.040 | 3 | 136310145 | intron variant | C/T | snv | 0.30 | 1 | ||
rs1554888939 | 0.683 | 0.640 | 9 | 137798823 | missense variant | G/T | snv | 58 | |||
rs13262595 | 1.000 | 0.040 | 8 | 142235609 | intron variant | A/C;G | snv | 3 | |||
rs13282237 | 1.000 | 0.040 | 8 | 142244830 | intron variant | A/G | snv | 0.55 | 1 | ||
rs28639817 | 1.000 | 0.040 | 8 | 14293898 | intron variant | A/G | snv | 0.15 | 1 | ||
rs730356 | 1.000 | 0.040 | 2 | 147779492 | intergenic variant | T/A | snv | 0.15 | 1 | ||
rs998884 | 1.000 | 0.040 | 2 | 147782283 | intergenic variant | A/G | snv | 0.37 | 1 | ||
rs5522 | 0.732 | 0.320 | 4 | 148436323 | missense variant | C/T | snv | 0.88 | 0.89 | 19 | |
rs2072621 | 0.851 | 0.080 | X | 151177387 | non coding transcript exon variant | C/A;G | snv | 7 | |||
rs13440581 | 0.882 | 0.080 | X | 151181399 | missense variant | A/G | snv | 0.45 | 0.45 | 5 | |
rs2234693 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 77 | ||
rs9340799 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 62 | ||
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 | |
rs769540300 | 0.851 | 0.200 | 6 | 154091047 | missense variant | G/A | snv | 1.2E-05 | 8 | ||
rs112146896 | 1.000 | 0.040 | 1 | 15418527 | intron variant | A/C;G;T | snv | 2 | |||
rs7567451 | 1.000 | 0.040 | 2 | 156196868 | intron variant | G/T | snv | 0.61 | 1 | ||
rs3213207 | 0.776 | 0.120 | 6 | 15627871 | intron variant | T/C | snv | 8.7E-02 | 11 | ||
rs1724725 | 1.000 | 0.040 | 3 | 158184607 | intron variant | A/G;T | snv | 1 | |||
rs3219151 | 0.752 | 0.160 | 5 | 161701908 | 3 prime UTR variant | C/T | snv | 0.51 | 14 | ||
rs13324323 | 1.000 | 0.040 | 3 | 166989488 | intergenic variant | C/T | snv | 0.23 | 1 | ||
rs79827531 | 1.000 | 0.040 | 2 | 167752805 | regulatory region variant | G/A | snv | 0.14 | 1 |