Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1635498 | 0.807 | 0.160 | 1 | 241881973 | missense variant | C/A;G;T | snv | 0.96 | 9 | ||
rs2043449 | 0.882 | 0.080 | 2 | 203251967 | missense variant | C/T | snv | 0.94 | 0.89 | 3 | |
rs9915936 | 0.827 | 0.120 | 17 | 65537671 | synonymous variant | T/C | snv | 0.90 | 0.90 | 5 | |
rs1046175 | 0.851 | 0.080 | 10 | 133391446 | stop gained | C/A;G;T | snv | 1.2E-05; 0.88 | 4 | ||
rs2230229 | 0.807 | 0.120 | 8 | 23191779 | missense variant | C/T | snv | 0.88 | 0.86 | 8 | |
rs2250889 | 0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 | 24 | ||
rs1625895 | 0.752 | 0.200 | 17 | 7674797 | non coding transcript exon variant | T/A;C;G | snv | 9.1E-06; 0.86; 4.5E-06 | 13 | ||
rs1047972 | 0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 | 19 | |
rs1043994 | 0.827 | 0.120 | 19 | 15192033 | synonymous variant | T/A;C | snv | 4.0E-06; 0.85 | 7 | ||
rs2229959 | 0.882 | 0.080 | 20 | 63350202 | synonymous variant | C/A;T | snv | 0.84; 1.3E-05 | 3 | ||
rs738792 | 0.827 | 0.240 | 22 | 23779191 | missense variant | C/T | snv | 0.84 | 0.80 | 6 | |
rs2057482 | 0.701 | 0.440 | 14 | 61747130 | 3 prime UTR variant | T/C | snv | 0.84 | 0.80 | 21 | |
rs3206824 | 0.827 | 0.160 | 11 | 11964514 | missense variant | T/C | snv | 0.78 | 0.78 | 6 | |
rs9912300 | 0.827 | 0.120 | 17 | 41869011 | intron variant | G/A;C;T | snv | 4.2E-06; 0.78 | 5 | ||
rs7969931 | 0.851 | 0.080 | 12 | 25089661 | missense variant | C/A;G | snv | 1.6E-05; 0.75 | 5 | ||
rs1883832 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 52 | |
rs20541 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 52 | |
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs4673 | 0.653 | 0.600 | 16 | 88646828 | missense variant | A/G;T | snv | 0.70 | 32 | ||
rs1948 | 0.827 | 0.160 | 15 | 78625057 | synonymous variant | A/G;T | snv | 0.69 | 5 | ||
rs228729 | 0.827 | 0.120 | 1 | 7785635 | intron variant | T/C | snv | 0.69 | 0.69 | 5 | |
rs1042711 | 0.827 | 0.120 | 5 | 148826785 | 5 prime UTR variant | C/A;G;T | snv | 4.2E-06; 0.68 | 5 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 72 | |
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 |