Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057524908 | 0.925 | 0.080 | 12 | 120993686 | frameshift variant | -/C | delins | 2 | |||
rs953686324 | 0.851 | 0.160 | 1 | 16044506 | frameshift variant | -/G | delins | 4.3E-06 | 5.6E-05 | 7 | |
rs164147 | 0.882 | 0.080 | 1 | 162368607 | 3 prime UTR variant | A/C | snv | 0.76 | 3 | ||
rs1410713 | 1.000 | 0.040 | 20 | 3079704 | downstream gene variant | A/C | snv | 0.62 | 1 | ||
rs2770381 | 1.000 | 0.040 | 20 | 3081340 | downstream gene variant | A/C | snv | 0.35 | 1 | ||
rs1137101 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 77 | |
rs4994 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 65 | |
rs1800797 | 0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 | 43 | ||
rs1801260 | 0.695 | 0.280 | 4 | 55435202 | 3 prime UTR variant | A/G | snv | 0.25 | 28 | ||
rs10010131 | 0.827 | 0.120 | 4 | 6291188 | intron variant | A/G | snv | 0.66 | 0.63 | 7 | |
rs7744 | 0.827 | 0.160 | 3 | 38142530 | 3 prime UTR variant | A/G | snv | 0.13 | 5 | ||
rs10770125 | 0.882 | 0.200 | 11 | 2147784 | missense variant | A/G | snv | 0.49 | 0.40 | 4 | |
rs12836771 | 0.882 | 0.080 | X | 114650913 | intron variant | A/G | snv | 0.12 | 4 | ||
rs193922331 | 0.882 | 0.080 | 7 | 44147726 | missense variant | A/G | snv | 7.0E-06 | 4 | ||
rs1057524906 | 0.925 | 0.080 | 7 | 44153387 | missense variant | A/G | snv | 2 | |||
rs534828104 | 0.925 | 0.080 | 3 | 186618566 | missense variant | A/G | snv | 2 | |||
rs8066560 | 0.925 | 0.040 | 17 | 17824729 | intron variant | A/G | snv | 0.64 | 2 | ||
rs10139403 | 1.000 | 0.040 | 14 | 100728224 | intron variant | A/G | snv | 0.62 | 1 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs11932595 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 12 | |||
rs10515074 | 0.925 | 0.120 | 5 | 68270365 | intron variant | A/G;T | snv | 2 | |||
rs1057524902 | 0.882 | 0.080 | 7 | 44145495 | splice donor variant | A/T | snv | 3 | |||
rs193929375 | 0.882 | 0.120 | 7 | 44145560 | missense variant | C/A | snv | 3 | |||
rs4644 | 0.732 | 0.320 | 14 | 55138217 | missense variant | C/A;G | snv | 0.35 | 14 | ||
rs518147 | 0.807 | 0.200 | X | 114584109 | 5 prime UTR variant | C/A;G | snv | 7 |