Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519847 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 72 | |||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 72 | |||
rs1057519975 | 0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv | 34 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs1131691036 | 0.851 | 0.080 | 17 | 7675207 | frameshift variant | GCA/CC | delins | 8 | |||
rs115160714 | 0.807 | 0.200 | 3 | 133601021 | 3 prime UTR variant | G/A | snv | 5.8E-03 | 9 | ||
rs1205 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 46 | ||
rs121434568 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 73 | |||
rs12190287 | 0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv | 19 | |||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs1219211410 | 0.925 | 0.080 | 20 | 3800494 | missense variant | T/C | snv | 3 | |||
rs12826786 | 0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 | 26 | ||
rs1285136498 | 0.807 | 0.080 | 5 | 143400101 | missense variant | G/A | snv | 13 | |||
rs13387042 | 0.732 | 0.280 | 2 | 217041109 | intergenic variant | A/G | snv | 0.44 | 16 | ||
rs13423759 | 0.925 | 0.080 | 2 | 211381247 | 3 prime UTR variant | A/C | snv | 6.8E-02 | 3 | ||
rs1412125 | 0.724 | 0.360 | 13 | 30467458 | intron variant | C/G;T | snv | 17 | |||
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs1570360 | 0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 | 38 | ||
rs1760944 | 0.672 | 0.480 | 14 | 20454990 | non coding transcript exon variant | T/C;G | snv | 26 | |||
rs1800469 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 78 | ||
rs1800624 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 33 | |||
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs1800896 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 113 | ||
rs1801157 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 46 | ||
rs2119882 | 0.807 | 0.320 | 4 | 186555751 | upstream gene variant | T/C | snv | 0.57 | 9 |