Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1801132 | 0.689 | 0.320 | 6 | 151944387 | synonymous variant | G/C | snv | 0.73 | 0.80 | 22 | |
rs26279 | 0.790 | 0.160 | 5 | 80873118 | missense variant | G/A | snv | 0.73 | 0.70 | 9 | |
rs5743810 | 0.689 | 0.360 | 4 | 38828729 | missense variant | A/G | snv | 0.73 | 0.72 | 20 | |
rs11523871 | 0.925 | 0.080 | 10 | 122570194 | missense variant | C/A | snv | 0.72 | 0.69 | 2 | |
rs462779 | 0.851 | 0.120 | 6 | 111374684 | missense variant | G/A | snv | 0.72 | 0.67 | 4 | |
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs2229611 | 0.851 | 0.160 | 17 | 42911449 | 3 prime UTR variant | T/C | snv | 0.71 | 0.73 | 4 | |
rs2305160 | 0.776 | 0.200 | 2 | 100974842 | missense variant | A/G | snv | 0.71 | 0.75 | 9 | |
rs8109631 | 0.882 | 0.080 | 19 | 53576890 | synonymous variant | A/G | snv | 0.70 | 0.76 | 3 | |
rs2292912 | 0.851 | 0.120 | 11 | 45856137 | non coding transcript exon variant | C/A;G;T | snv | 8.0E-06; 0.69 | 4 | ||
rs9306160 | 0.925 | 0.080 | 21 | 43687681 | missense variant | T/C | snv | 0.69 | 0.73 | 3 | |
rs10719 | 0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 | 24 | ||
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs2295283 | 0.925 | 0.080 | 1 | 12022869 | stop gained | A/G;T | snv | 0.68 | 2 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs4646 | 0.716 | 0.360 | 15 | 51210647 | 3 prime UTR variant | A/C | snv | 0.67 | 0.70 | 16 | |
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 29 | ||
rs4636297 | 0.724 | 0.360 | 9 | 136670698 | intron variant | A/G | snv | 0.67 | 0.65 | 14 | |
rs523349 | 0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 | 21 | ||
rs1776148 | 0.807 | 0.160 | 1 | 241879243 | missense variant | A/G | snv | 0.66 | 0.66 | 9 | |
rs2290854 | 0.925 | 0.080 | 1 | 204546897 | intron variant | A/G | snv | 0.65 | 0.57 | 2 | |
rs3130932 | 0.925 | 0.080 | 6 | 31166166 | 5 prime UTR variant | C/A | snv | 0.65 | 0.69 | 4 | |
rs1864112 | 0.925 | 0.080 | 19 | 17338152 | missense variant | A/C;T | snv | 0.64 | 2 | ||
rs2228001 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 60 |