Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28363170 | 0.827 | 0.120 | 5 | 1393745 | 3 prime UTR variant | -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC | delins | 8.1E-06 | 7 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs11568822 | 1.000 | 0.080 | 19 | 44914381 | 5 prime UTR variant | -/CGTT | delins | 1 | |||
rs1566638673 | 1.000 | 0.080 | 14 | 73186881 | inframe insertion | -/TAT | delins | 1 | |||
rs1799752 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 25 | |||
rs1455460144 | 1.000 | 0.080 | 10 | 49625580 | frameshift variant | A/- | del | 7.0E-06 | 1 | ||
rs4646 | 0.716 | 0.360 | 15 | 51210647 | 3 prime UTR variant | A/C | snv | 0.67 | 0.70 | 16 | |
rs242941 | 0.790 | 0.200 | 17 | 45815154 | intron variant | A/C | snv | 0.62 | 9 | ||
rs2740488 | 0.827 | 0.120 | 9 | 104899461 | intron variant | A/C | snv | 0.29 | 9 | ||
rs63750311 | 0.790 | 0.240 | 14 | 73192647 | missense variant | A/C | snv | 8 | |||
rs1133763 | 0.882 | 0.200 | 17 | 34320812 | missense variant | A/C | snv | 0.21 | 0.15 | 4 | |
rs1362575880 | 0.851 | 0.120 | 14 | 73192840 | missense variant | A/C | snv | 4.0E-06 | 4 | ||
rs63749964 | 0.851 | 0.080 | 21 | 25891783 | missense variant | A/C | snv | 4 | |||
rs7840202 | 0.851 | 0.160 | 8 | 102296172 | intron variant | A/C | snv | 0.21 | 4 | ||
rs121908402 | 0.882 | 0.280 | 6 | 41161277 | missense variant | A/C | snv | 1.2E-05 | 3 | ||
rs157590 | 0.882 | 0.160 | 19 | 44895459 | intron variant | A/C | snv | 0.60 | 3 | ||
rs1036819 | 0.925 | 0.120 | 8 | 134599702 | non coding transcript exon variant | A/C | snv | 0.11 | 2 | ||
rs1200601649 | 0.925 | 0.080 | 21 | 26022022 | missense variant | A/C | snv | 2 | |||
rs201093867 | 0.925 | 0.080 | 21 | 26021995 | missense variant | A/C | snv | 2 | |||
rs2965169 | 0.925 | 0.120 | 19 | 44747899 | non coding transcript exon variant | A/C | snv | 0.50 | 2 | ||
rs63750888 | 0.925 | 0.080 | 14 | 73192828 | missense variant | A/C | snv | 2 | |||
rs6455128 | 1.000 | 0.080 | 6 | 61987841 | intron variant | A/C | snv | 0.79 | 2 | ||
rs730437 | 0.925 | 0.120 | 7 | 55147325 | intron variant | A/C | snv | 0.51 | 2 | ||
rs10109834 | 1.000 | 0.080 | 8 | 27354759 | intron variant | A/C | snv | 0.44 | 1 | ||
rs1033301 | 1.000 | 0.080 | 2 | 17592731 | intron variant | A/C | snv | 0.11 | 1 |