Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1799793 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 72 | ||
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs2228001 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 60 | |
rs10069690 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 53 | ||
rs4149056 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 45 | |
rs1800975 | 0.701 | 0.360 | 9 | 97697296 | 5 prime UTR variant | T/C;G | snv | 0.63; 4.5E-06; 4.5E-06 | 19 | ||
rs2976392 | 0.724 | 0.240 | 8 | 142681514 | 3 prime UTR variant | G/A | snv | 0.46 | 0.45 | 15 | |
rs8170 | 0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 | 13 | |
rs2291738 | 0.807 | 0.160 | 12 | 56421497 | splice region variant | T/C | snv | 0.43 | 0.39 | 8 | |
rs4849887 | 0.807 | 0.080 | 2 | 120487546 | intergenic variant | T/A;C | snv | 7 | |||
rs2978974 | 0.790 | 0.200 | 8 | 142670446 | non coding transcript exon variant | G/A | snv | 0.38 | 7 | ||
rs50872 | 0.827 | 0.120 | 19 | 45359191 | intron variant | A/G;T | snv | 5 | |||
rs1408080623 | 0.851 | 0.080 | 11 | 101128058 | missense variant | G/A | snv | 5 | |||
rs614367 | 0.882 | 0.080 | 11 | 69513996 | intergenic variant | C/T | snv | 0.14 | 4 | ||
rs6828523 | 0.851 | 0.080 | 4 | 174925275 | intron variant | C/A | snv | 0.20 | 4 | ||
rs362962 | 0.882 | 0.080 | 6 | 146312682 | intron variant | T/C | snv | 0.39 | 4 | ||
rs7302060 | 0.882 | 0.080 | 12 | 56435308 | intron variant | T/A;C | snv | 3 |