Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12826786 | 0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 | 26 | ||
rs2252586 | 0.882 | 0.040 | 7 | 54911231 | intergenic variant | C/T | snv | 0.27 | 5 | ||
rs4635969 | 0.827 | 0.160 | 5 | 1308437 | downstream gene variant | G/A;T | snv | 7 | |||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs34988193 | 1.000 | 0.040 | 15 | 64943580 | missense variant | A/G | snv | 0.31 | 0.28 | 2 | |
rs2279115 | 0.724 | 0.320 | 18 | 63319604 | 5 prime UTR variant | G/A;T | snv | 18 | |||
rs17655 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 52 | |
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs1045485 | 0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 | 34 | ||
rs4295627 | 0.763 | 0.200 | 8 | 129673211 | intron variant | T/G | snv | 0.17 | 11 | ||
rs55705857 | 0.732 | 0.080 | 8 | 129633446 | intron variant | A/G | snv | 3.9E-02 | 16 | ||
rs603965 | 0.732 | 0.440 | 11 | 69648142 | splice region variant | G/A | snv | 14 | |||
rs3212986 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 42 | ||
rs753152604 | 0.827 | 0.040 | 12 | 57751680 | missense variant | C/A | snv | 7 | |||
rs1444669684 | 0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv | 36 | |||
rs781172058 | 0.732 | 0.320 | 2 | 136115340 | synonymous variant | C/T | snv | 4.0E-06 | 16 | ||
rs11979158 | 0.882 | 0.040 | 7 | 55091656 | intron variant | A/G;T | snv | 0.20 | 5 | ||
rs397517132 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 48 | |||
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs1799793 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 72 | ||
rs1801394 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 101 | |
rs61757955 | 1.000 | 0.040 | 17 | 75318086 | 3 prime UTR variant | A/G | snv | 4.2E-02 | 2 | ||
rs1138272 | 0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 | 42 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 |