Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3130253 | 0.925 | 0.120 | 6 | 29666235 | missense variant | A/G;T | snv | 0.95; 4.1E-06 | 3 | ||
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs942637 | 1.000 | 0.080 | 6 | 33685334 | intron variant | T/A;C | snv | 0.92 | 2 | ||
rs3135391 | 1.000 | 0.080 | 6 | 32443210 | synonymous variant | A/G | snv | 0.91 | 0.90 | 1 | |
rs3134943 | 0.882 | 0.240 | 6 | 32179984 | intron variant | T/A;C | snv | 0.89 | 3 | ||
rs207906 | 1.000 | 0.080 | 2 | 216148178 | synonymous variant | A/G | snv | 0.88 | 0.88 | 1 | |
rs2227956 | 0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 | 12 | ||
rs3094609 | 0.925 | 0.080 | 6 | 31197789 | non coding transcript exon variant | T/C | snv | 0.86 | 0.89 | 5 | |
rs760293 | 1.000 | 0.080 | 6 | 31644000 | intron variant | T/C | snv | 0.84 | 0.81 | 1 | |
rs3129941 | 0.882 | 0.240 | 6 | 32369909 | missense variant | A/G;T | snv | 0.81 | 3 | ||
rs2288904 | 0.807 | 0.240 | 19 | 10631494 | missense variant | A/G | snv | 0.80 | 0.83 | 8 | |
rs1728785 | 0.925 | 0.120 | 16 | 68557327 | intron variant | A/C;T | snv | 0.77; 7.8E-06 | 2 | ||
rs630379 | 0.882 | 0.200 | 6 | 31954477 | intron variant | A/C | snv | 0.77 | 0.79 | 3 | |
rs535586 | 0.882 | 0.160 | 6 | 31892560 | splice region variant | T/A;C | snv | 0.77 | 3 | ||
rs486416 | 0.925 | 0.160 | 6 | 31888293 | intron variant | G/A | snv | 0.77 | 0.76 | 2 | |
rs659445 | 0.882 | 0.160 | 6 | 31896527 | intron variant | G/A;C | snv | 0.77 | 0.76 | 3 | |
rs2234978 | 1.000 | 0.080 | 10 | 89012072 | synonymous variant | T/C | snv | 0.77 | 0.72 | 1 | |
rs437179 | 0.882 | 0.160 | 6 | 31961237 | missense variant | A/C | snv | 0.76 | 0.78 | 3 | |
rs6971 | 0.742 | 0.200 | 22 | 43162920 | missense variant | A/G | snv | 0.76 | 0.75 | 11 | |
rs3130981 | 0.925 | 0.080 | 6 | 31116036 | missense variant | T/C;G | snv | 0.76 | 5 | ||
rs4959786 | 1.000 | 0.080 | 6 | 3264253 | missense variant | T/A;C | snv | 0.75 | 0.68 | 1 | |
rs1883832 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 52 | |
rs7535818 | 1.000 | 0.080 | 1 | 192575969 | non coding transcript exon variant | G/A | snv | 0.74 | 0.66 | 1 | |
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 |