Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs773857 | 19 | 16908042 | intron variant | C/T | snv | 0.56 | 1 | ||||
rs566794487 | 12 | 106997986 | missense variant | A/C | snv | 3.6E-05 | 1 | ||||
rs12765063 | 10 | 35127641 | intron variant | G/A | snv | 0.14 | 2 | ||||
rs2110267 | 1.000 | 0.040 | 7 | 153838604 | intergenic variant | C/G | snv | 0.32 | 3 | ||
rs2283265 | 0.776 | 0.160 | 11 | 113414814 | intron variant | C/A | snv | 0.16 | 12 | ||
rs6278 | 1.000 | 0.080 | 11 | 113410002 | 3 prime UTR variant | C/A | snv | 0.14 | 2 | ||
rs1799732 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 11 | |||
rs2281997 | 0.882 | 0.240 | 9 | 34521869 | intron variant | T/A;C | snv | 5 | |||
rs121913470 | 0.776 | 0.200 | 17 | 39723967 | missense variant | T/C;G | snv | 13 | |||
rs1057519475 | 1.000 | 0.080 | 6 | 1610761 | stop gained | C/T | snv | 2 | |||
rs372857241 | 1.000 | 0.080 | 6 | 1610586 | stop gained | C/G;T | snv | 1.8E-05 | 2 | ||
rs150450891 | 16 | 53826341 | missense variant | G/A | snv | 4.6E-04 | 5.7E-04 | 1 | |||
rs121909731 | 0.851 | 0.120 | 10 | 87057692 | missense variant | G/A;C | snv | 4.0E-06 | 7 | ||
rs2161961 | 18 | 11774501 | intron variant | A/G | snv | 0.31 | 3 | ||||
rs2284411 | 1.000 | 0.040 | 12 | 13713238 | intron variant | C/T | snv | 0.34 | 4 | ||
rs1057518644 | 0.925 | 0.120 | 8 | 43192413 | stop gained | C/T | snv | 10 | |||
rs6296 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 23 | |
rs6313 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 82 | |
rs75634836 | 0.807 | 0.160 | 13 | 46835532 | missense variant | C/A;T | snv | 4.0E-06 | 11 | ||
rs1566785444 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 20 | |||
rs5918 | 0.683 | 0.480 | 17 | 47283364 | missense variant | T/C | snv | 0.12 | 0.13 | 26 | |
rs1541665 | 1.000 | 0.040 | 5 | 170715913 | intron variant | C/G;T | snv | 0.21 | 2 | ||
rs202247812 | 1.000 | 0.160 | 12 | 25225717 | missense variant | T/C | snv | 2 | |||
rs121918626 | 0.925 | 0.080 | 2 | 166012179 | missense variant | T/G | snv | 3 |