Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs172378 | 0.790 | 0.240 | 1 | 22638945 | synonymous variant | A/G | snv | 0.49 | 0.51 | 11 | |
rs3813729 | 0.925 | 0.120 | 12 | 7089608 | missense variant | C/G;T | snv | 2 | |||
rs6449182 | 0.807 | 0.160 | 4 | 15778830 | intron variant | C/G | snv | 0.22 | 6 | ||
rs1443292790 | 1.000 | 0.120 | 17 | 63929438 | missense variant | T/C | snv | 2 | |||
rs9831894 | 0.882 | 0.120 | 3 | 122081640 | intron variant | A/C | snv | 0.31 | 3 | ||
rs2681416 | 0.925 | 0.120 | 3 | 122098766 | intron variant | G/A | snv | 0.26 | 2 | ||
rs751837 | 0.882 | 0.120 | 14 | 103018488 | intron variant | T/C | snv | 0.23 | 4 | ||
rs1426981647 | 0.925 | 0.200 | 22 | 28710038 | missense variant | T/C | snv | 4.0E-06 | 2 | ||
rs3025684 | 1.000 | 0.120 | 16 | 3745362 | splice region variant | G/A | snv | 7.7E-02 | 0.15 | 2 | |
rs4673 | 0.653 | 0.600 | 16 | 88646828 | missense variant | A/G;T | snv | 0.70 | 32 | ||
rs806321 | 0.851 | 0.160 | 13 | 50267187 | intron variant | C/T | snv | 0.47 | 4 | ||
rs777500092 | 1.000 | 0.120 | 2 | 25246231 | missense variant | G/A | snv | 8.0E-06 | 2 | ||
rs758653954 | 0.925 | 0.120 | 14 | 23357350 | frameshift variant | -/C | delins | 4.0E-06; 8.0E-06 | 2 | ||
rs931920092 | 0.925 | 0.120 | 14 | 23357350 | missense variant | G/A;C | snv | 2 | |||
rs20551 | 0.752 | 0.320 | 22 | 41152004 | missense variant | A/G | snv | 0.31 | 0.23 | 10 | |
rs2234922 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 42 | ||
rs1799793 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 72 | ||
rs1178732315 | 0.882 | 0.240 | 1 | 155236381 | missense variant | A/G | snv | 1.4E-05 | 3 | ||
rs1227230819 | 0.925 | 0.120 | 5 | 37815877 | missense variant | T/C | snv | 4.0E-06 | 2 | ||
rs3957357 | 0.807 | 0.280 | 6 | 52803889 | upstream gene variant | A/G | snv | 0.63 | 7 | ||
rs2523607 | 1.000 | 0.120 | 6 | 31355013 | non coding transcript exon variant | T/A | snv | 1 | |||
rs1800890 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 29 | ||
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs1800896 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 113 | ||
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 |