Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs13114738 | 0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv | 16 | |||
rs1320702652 | 0.752 | 0.160 | 15 | 43824536 | missense variant | G/A | snv | 4.0E-06 | 11 | ||
rs1728918 | 0.827 | 0.160 | 2 | 27412596 | upstream gene variant | A/G;T | snv | 19 | |||
rs1799752 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 25 | |||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs2549513 | 0.851 | 0.080 | 16 | 79516830 | downstream gene variant | C/A;T | snv | 4 | |||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs4506565 | 0.790 | 0.280 | 10 | 112996282 | intron variant | A/G;T | snv | 22 | |||
rs460976 | 0.851 | 0.120 | 21 | 41463567 | downstream gene variant | A/G;T | snv | 7 | |||
rs4704221 | 0.851 | 0.120 | 5 | 75463358 | intron variant | T/A;C | snv | 16 | |||
rs478442 | 0.851 | 0.120 | 2 | 21176344 | intergenic variant | G/C;T | snv | 18 | |||
rs4905014 | 0.851 | 0.120 | 14 | 92945686 | intron variant | G/A;C | snv | 16 | |||
rs5219 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 25 | ||
rs7081476 | 0.851 | 0.120 | 10 | 26969741 | intergenic variant | G/C;T | snv | 7 | |||
rs7115242 | 0.851 | 0.120 | 11 | 117037567 | intron variant | A/G;T | snv | 16 | |||
rs765547 | 0.827 | 0.160 | 8 | 20008763 | intergenic variant | G/A;C;T | snv | 18 | |||
rs911119 | 0.807 | 0.120 | 20 | 23632100 | non coding transcript exon variant | C/G;T | snv | 9 | |||
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs1800730 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 32 | |
rs1799895 | 0.683 | 0.360 | 4 | 24800212 | missense variant | C/G | snv | 2.3E-02 | 1.2E-02 | 26 | |
rs3798220 | 0.732 | 0.160 | 6 | 160540105 | missense variant | T/C | snv | 5.6E-02 | 3.1E-02 | 16 | |
rs12420422 | 0.851 | 0.120 | 11 | 123009573 | intergenic variant | G/A | snv | 3.4E-02 | 16 |