Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11670188 | 0.925 | 0.040 | 19 | 2014038 | non coding transcript exon variant | A/G | snv | 0.16 | 2 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 101 | ||
rs562015640 | 0.742 | 0.360 | 10 | 87960957 | stop gained | A/G;T | snv | 1.2E-05 | 16 | ||
rs1057519936 | 0.776 | 0.200 | 3 | 179234284 | missense variant | A/G;T | snv | 11 | |||
rs498872 | 0.776 | 0.240 | 11 | 118606652 | 5 prime UTR variant | A/G;T | snv | 10 | |||
rs1057519917 | 0.807 | 0.160 | 1 | 11124517 | missense variant | A/G;T | snv | 7 | |||
rs11979158 | 0.882 | 0.040 | 7 | 55091656 | intron variant | A/G;T | snv | 0.20 | 5 | ||
rs648044 | 0.882 | 0.040 | 11 | 114160077 | non coding transcript exon variant | A/G;T | snv | 4 | |||
rs2291427 | 0.925 | 0.040 | 10 | 45440776 | intron variant | A/G;T | snv | 2 | |||
rs11571833 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 43 | |
rs1057519903 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 28 | |||
rs1057519926 | 0.776 | 0.200 | 3 | 179210293 | missense variant | A/T | snv | 10 | |||
rs11196067 | 0.752 | 0.160 | 10 | 112709306 | intron variant | A/T | snv | 0.32 | 10 | ||
rs2562152 | 0.882 | 0.040 | 16 | 73898 | intron variant | A/T | snv | 0.67 | 4 | ||
rs59060240 | 0.882 | 0.040 | 7 | 55080369 | intron variant | AA/-;A;AAA;AAAA;AAAAAAAAAAA | delins | 4 | |||
rs1558518449 | 1.000 | 0.040 | 2 | 47475221 | frameshift variant | ATGACGTA/- | delins | 1 | |||
rs1200941109 | 0.882 | 0.040 | 2 | 15940679 | frameshift variant | C/-;CC | delins | 4 | |||
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs7003908 | 0.716 | 0.320 | 8 | 47858141 | intron variant | C/A | snv | 0.66 | 16 | ||
rs753152604 | 0.827 | 0.040 | 12 | 57751680 | missense variant | C/A | snv | 7 | |||
rs3092993 | 0.827 | 0.040 | 11 | 108364388 | intron variant | C/A | snv | 0.11 | 5 | ||
rs121913286 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 23 | |||
rs866775781 | 0.716 | 0.440 | 17 | 7675216 | splice acceptor variant | C/A;G | snv | 17 | |||
rs4644 | 0.732 | 0.320 | 14 | 55138217 | missense variant | C/A;G | snv | 0.35 | 14 |