Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs760832624 | 0.882 | 0.120 | 10 | 103458488 | frameshift variant | CAGCGGCC/- | delins | 3 | |||
rs2986017 | 0.851 | 0.120 | 10 | 103458495 | missense variant | A/G | snv | 0.79 | 0.80 | 6 | |
rs386747134 | 0.882 | 0.120 | 10 | 103458495 | missense variant | AGC/GGT | mnv | 3 | |||
rs3740473 | 1.000 | 0.080 | 10 | 103602422 | synonymous variant | G/A;T | snv | 9.7E-02 | 1 | ||
rs2299356 | 1.000 | 0.080 | 7 | 103669375 | intron variant | A/G | snv | 0.53 | 1 | ||
rs8007903 | 0.925 | 0.120 | 14 | 103671306 | intron variant | A/G | snv | 0.27 | 2 | ||
rs8702 | 0.851 | 0.160 | 14 | 103686015 | 3 prime UTR variant | C/G | snv | 0.61 | 5 | ||
rs3212079 | 1.000 | 0.080 | 14 | 103704128 | 3 prime UTR variant | G/A | snv | 5.2E-02 | 1 | ||
rs528528 | 0.925 | 0.080 | 7 | 103748638 | intron variant | T/A;C | snv | 2 | |||
rs607755 | 1.000 | 0.080 | 7 | 103749507 | splice region variant | A/G | snv | 0.49 | 0.50 | 1 | |
rs111278892 | 1.000 | 0.080 | 19 | 1039324 | upstream gene variant | C/G;T | snv | 0.12 | 1 | ||
rs3795065 | 1.000 | 0.080 | 19 | 1039445 | upstream gene variant | C/G;T | snv | 1 | |||
rs186971130 | 1.000 | 0.080 | 2 | 104003000 | intron variant | G/A | snv | 8.7E-03 | 1 | ||
rs28868104 | 1.000 | 0.080 | 3 | 104241993 | intergenic variant | C/T | snv | 0.17 | 2 | ||
rs4925 | 0.677 | 0.560 | 10 | 104263031 | missense variant | C/A | snv | 0.25 | 0.23 | 28 | |
rs156697 | 0.672 | 0.560 | 10 | 104279427 | missense variant | A/G;T | snv | 0.35 | 25 | ||
rs72973581 | 1.000 | 0.080 | 19 | 1043104 | missense variant | G/A | snv | 4.2E-02 | 4.0E-02 | 1 | |
rs3752231 | 1.000 | 0.080 | 19 | 1043639 | intron variant | C/A;T | snv | 1 | |||
rs3752232 | 1.000 | 0.080 | 19 | 1043749 | missense variant | A/G | snv | 5.5E-02 | 0.10 | 1 | |
rs148078867 | 0.925 | 0.080 | 19 | 1044727 | missense variant | C/G | snv | 2.2E-04 | 2.1E-04 | 2 | |
rs3764650 | 0.790 | 0.200 | 19 | 1046521 | intron variant | T/G | snv | 0.14 | 9 | ||
rs146292819 | 0.790 | 0.240 | 9 | 104794495 | missense variant | T/G | snv | 2.9E-04 | 3.8E-04 | 9 | |
rs2498786 | 0.925 | 0.160 | 14 | 104796031 | upstream gene variant | C/G | snv | 0.50 | 2 | ||
rs2230808 | 0.827 | 0.240 | 9 | 104800523 | missense variant | T/C | snv | 0.71 | 0.60 | 6 | |
rs2234886 | 1.000 | 0.080 | 9 | 104800523 | missense variant | T/C | snv | 1 |