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 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs843720 | 0.752 | 0.280 | 2 | 54283523 | intron variant | T/G | snv | 0.52 | 10 | ||
rs2066853 | 0.653 | 0.600 | 7 | 17339486 | missense variant | G/A | snv | 0.15 | 0.22 | 34 | |
rs2158041 | 0.807 | 0.160 | 7 | 17328796 | intron variant | T/C | snv | 0.81 | 6 | ||
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 | |||
rs3212986 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 42 | ||
rs2151280 | 0.701 | 0.360 | 9 | 22034720 | non coding transcript exon variant | G/A | snv | 0.46 | 16 | ||
rs4977756 | 0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 | 24 | ||
rs1444669684 | 0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv | 36 | |||
rs4073 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 64 | ||
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 | |
rs2298881 | 0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv | 25 | |||
rs1799793 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 72 | ||
rs1800067 | 0.716 | 0.320 | 16 | 13935176 | missense variant | G/A | snv | 5.6E-02 | 5.3E-02 | 17 | |
rs3136038 | 0.763 | 0.200 | 16 | 13919522 | upstream gene variant | C/T | snv | 0.36 | 13 | ||
rs4246215 | 0.677 | 0.320 | 11 | 61796827 | 3 prime UTR variant | G/C;T | snv | 29 | |||
rs1801394 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 101 | |
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 | |
rs920778 | 0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 | 36 | ||
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 111 |