Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 13 | |
rs7076156 | 0.925 | 0.120 | 10 | 62655424 | missense variant | A/C;G | snv | 0.80 | 1 | ||
rs2302759 | 1.000 | 0.040 | 16 | 50793690 | intron variant | A/C;G | snv | 4.0E-06; 0.79 | 1 | ||
rs4246905 | 0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 | 2 | ||
rs2227564 | 0.763 | 0.320 | 10 | 73913343 | missense variant | T/C | snv | 0.75 | 0.81 | 1 | |
rs3810936 | 0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 | 1 | |
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 24 | ||
rs2274910 | 0.827 | 0.200 | 1 | 160882256 | non coding transcript exon variant | T/C | snv | 0.65 | 0.58 | 3 | |
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 25 | |
rs30187 | 0.732 | 0.360 | 5 | 96788627 | missense variant | T/A;C | snv | 0.62 | 1 | ||
rs2293152 | 0.763 | 0.480 | 17 | 42329511 | intron variant | G/A;C;T | snv | 2.8E-05; 0.59; 1.6E-05 | 1 | ||
rs6622126 | 0.851 | 0.080 | X | 106956972 | missense variant | G/A | snv | 0.58 | 1 | ||
rs12103 | 0.925 | 0.040 | 1 | 1312114 | synonymous variant | T/A;C;G | snv | 0.56 | 1 | ||
rs4343 | 0.742 | 0.480 | 17 | 63488670 | synonymous variant | G/A | snv | 0.53 | 1 | ||
rs1042058 | 1.000 | 0.040 | 10 | 30439172 | synonymous variant | T/C | snv | 0.51 | 0.45 | 1 | |
rs280519 | 0.752 | 0.320 | 19 | 10362257 | splice region variant | A/C;G | snv | 0.50 | 2 | ||
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 5 | ||
rs2241880 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 1 | |
rs12994997 | 1.000 | 0.040 | 2 | 233264857 | intron variant | G/A;C | snv | 0.45; 4.0E-06 | 1 | ||
rs3792109 | 1.000 | 0.040 | 2 | 233275771 | non coding transcript exon variant | G/A | snv | 0.45 | 0.42 | 1 | |
rs1292053 | 1.000 | 0.040 | 17 | 59886176 | missense variant | A/G | snv | 0.45 | 0.46 | 1 | |
rs7518660 | 0.925 | 0.120 | 1 | 67219760 | intron variant | G/A | snv | 0.43 | 0.47 | 1 | |
rs10781499 | 0.925 | 0.040 | 9 | 136371953 | synonymous variant | G/A | snv | 0.41 | 0.38 | 2 | |
rs4077515 | 0.763 | 0.360 | 9 | 136372044 | missense variant | C/A;T | snv | 4.0E-06; 0.41 | 2 | ||
rs602662 | 0.716 | 0.280 | 19 | 48703728 | missense variant | G/A | snv | 0.40 | 0.47 | 1 |