Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs12541709 | 1.000 | 0.080 | 8 | 9751081 | intron variant | C/G | snv | 0.29 | 2 | ||
rs7015700 | 1.000 | 0.080 | 8 | 9670197 | splice donor variant | G/A | snv | 0.23 | 2 | ||
rs10503380 | 1.000 | 0.080 | 8 | 9552985 | upstream gene variant | C/T | snv | 0.25 | 2 | ||
rs11991621 | 1.000 | 0.080 | 8 | 9549072 | intergenic variant | C/T | snv | 0.18 | 2 | ||
rs6601328 | 1.000 | 0.080 | 8 | 9545693 | regulatory region variant | G/A;C | snv | 2 | |||
rs1340420 | 0.925 | 0.080 | 10 | 91857549 | intron variant | A/G | snv | 0.71 | 0.70 | 3 | |
rs1770474 | 0.925 | 0.080 | 10 | 91833770 | intron variant | G/A;T | snv | 3 | |||
rs2279574 | 0.827 | 0.120 | 12 | 89351700 | missense variant | C/A;T | snv | 0.52 | 8 | ||
rs3114020 | 0.882 | 0.200 | 4 | 88162514 | intron variant | T/C | snv | 0.40 | 5 | ||
rs759435862 | 0.925 | 0.080 | 2 | 8776852 | missense variant | C/A;T | snv | 2.0E-05 | 5 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs6495309 | 0.807 | 0.080 | 15 | 78622903 | upstream gene variant | C/A;T | snv | 10 | |||
rs762846821 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 57 | ||
rs1800372 | 0.752 | 0.240 | 17 | 7674892 | synonymous variant | T/A;C | snv | 1.3E-02 | 15 | ||
rs587782289 | 0.752 | 0.240 | 17 | 7674257 | missense variant | A/C;G;T | snv | 15 | |||
rs1048943 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 88 | |
rs397517132 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 48 | |||
rs121913444 | 0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv | 18 | |||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 72 | |||
rs121434568 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 73 | |||
rs1057519847 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 72 | |||
rs121434569 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 70 | |
rs121913465 | 0.763 | 0.160 | 7 | 55181312 | missense variant | G/T | snv | 11 | |||
rs397517108 | 0.790 | 0.120 | 7 | 55181312 | missense variant | GC/TT | mnv | 9 |