Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs132770 | 0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 | 14 | ||
rs1805105 | 0.776 | 0.280 | 16 | 346264 | synonymous variant | A/G | snv | 0.61 | 0.69 | 11 | |
rs2297235 | 0.752 | 0.320 | 10 | 104274733 | 5 prime UTR variant | A/G | snv | 0.22 | 11 | ||
rs3021097 | 0.752 | 0.440 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 10 | |||
rs718314 | 0.882 | 0.120 | 12 | 26300350 | intron variant | A/G | snv | 0.27 | 6 | ||
rs1416313401 | 0.827 | 0.160 | 8 | 109578004 | missense variant | A/G | snv | 4.1E-06 | 5 | ||
rs71428439 | 0.827 | 0.200 | 2 | 240456083 | non coding transcript exon variant | A/G | snv | 0.11 | 0.13 | 5 | |
rs1312268347 | 0.925 | 0.120 | 9 | 133734172 | start lost | A/G | snv | 5.0E-06 | 4 | ||
rs1982809 | 0.882 | 0.200 | 3 | 112463893 | downstream gene variant | A/G | snv | 0.28 | 3 | ||
rs2243289 | 0.882 | 0.240 | 5 | 132682440 | intron variant | A/G | snv | 0.26 | 0.23 | 3 | |
rs1154454 | 0.925 | 0.120 | 4 | 99417185 | intron variant | A/G | snv | 0.22 | 2 | ||
rs2504106 | 0.925 | 0.120 | 6 | 39854343 | intron variant | A/G | snv | 0.61 | 2 | ||
rs6466135 | 0.925 | 0.120 | 7 | 106861053 | upstream gene variant | A/G | snv | 0.71 | 2 | ||
rs6641352 | 0.925 | 0.120 | X | 149711150 | intron variant | A/G | snv | 2 | |||
rs7132434 | 0.925 | 0.120 | 12 | 26319629 | non coding transcript exon variant | A/G | snv | 0.62 | 2 | ||
rs7579899 | 0.925 | 0.120 | 2 | 46310465 | intron variant | A/G | snv | 0.52 | 2 | ||
rs147608663 | 1.000 | 0.120 | 5 | 97171338 | missense variant | A/G | snv | 2.8E-05; 8.1E-06 | 4.9E-05 | 1 | |
rs156697 | 0.672 | 0.560 | 10 | 104279427 | missense variant | A/G;T | snv | 0.35 | 25 | ||
rs1550117 | 0.790 | 0.320 | 2 | 25343038 | upstream gene variant | A/G;T | snv | 11 | |||
rs12617313 | 0.925 | 0.120 | 2 | 46332637 | intron variant | A/G;T | snv | 2 | |||
rs2243270 | 0.925 | 0.120 | 5 | 132678417 | intron variant | A/G;T | snv | 2 | |||
rs876658517 | 1.000 | 0.120 | 11 | 108327735 | missense variant | A/G;T | snv | 1 | |||
rs7102764 | 0.925 | 0.120 | 11 | 88778092 | intron variant | A/T | snv | 0.50 | 2 | ||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs1131690838 | 0.925 | 0.120 | 17 | 17228135 | frameshift variant | C/- | del | 3 |