Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 1 | |||
rs80357517 | 0.827 | 0.200 | 17 | 43092277 | frameshift variant | -/T | delins | 2 | |||
rs17879961 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 15 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 22 | ||
rs28897672 | 0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 | 10 | ||
rs80357474 | 0.827 | 0.200 | 17 | 43049188 | missense variant | A/C;G;T | snv | 8.0E-06 | 5 | ||
rs80357327 | 0.827 | 0.200 | 17 | 43115730 | missense variant | A/C;G;T | snv | 3 | |||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 1 | ||
rs2072590 | 0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv | 3 | |||
rs80357115 | 0.790 | 0.200 | 17 | 43092597 | stop gained | A/C;T | snv | 3 | |||
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 1 | ||
rs10505477 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 13 | ||
rs1024611 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 4 | ||
rs11782652 | 0.851 | 0.120 | 8 | 81741409 | intron variant | A/G | snv | 6.6E-02 | 3 | ||
rs121964872 | 0.882 | 0.120 | 16 | 68833362 | missense variant | A/G | snv | 4.4E-05 | 1.1E-04 | 3 | |
rs13281615 | 0.716 | 0.360 | 8 | 127343372 | intron variant | A/G | snv | 0.43 | 3 | ||
rs28933370 | 0.882 | 0.120 | 17 | 39725125 | missense variant | A/G | snv | 7.0E-06 | 3 | ||
rs2981582 | 0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 | 3 | ||
rs3803662 | 0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 | 3 | ||
rs9303542 | 0.882 | 0.120 | 17 | 48334138 | intron variant | A/G | snv | 0.34 | 3 | ||
rs17251221 | 0.724 | 0.360 | 3 | 122274400 | intron variant | A/G | snv | 0.11 | 2 | ||
rs181206 | 0.742 | 0.440 | 16 | 28502082 | missense variant | A/G | snv | 0.28 | 0.24 | 2 | |
rs2070074 | 0.742 | 0.360 | 9 | 34649445 | missense variant | A/G | snv | 9.2E-02 | 7.4E-02 | 2 | |
rs273900729 | 0.925 | 0.160 | 17 | 43082529 | missense variant | A/G | snv | 2 | |||
rs4987046 | 0.925 | 0.160 | 13 | 32319134 | missense variant | A/G | snv | 1.6E-03 | 1.6E-03 | 2 |