Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs538874513 | 0.807 | 0.120 | 1 | 3730017 | missense variant | C/G;T | snv | 8.2E-06; 8.2E-06 | 6 | ||
rs595961 | 0.807 | 0.160 | 1 | 35902179 | intron variant | A/G | snv | 0.30 | 0.37 | 6 | |
rs228729 | 0.827 | 0.120 | 1 | 7785635 | intron variant | T/C | snv | 0.69 | 0.69 | 5 | |
rs3134615 | 0.827 | 0.120 | 1 | 39896394 | 3 prime UTR variant | C/A | snv | 0.17 | 5 | ||
rs3842530 | 0.827 | 0.120 | 1 | 209432292 | non coding transcript exon variant | GCAGCAGCAGCAGCAGCAGCAGCAGCA/-;GCA;GCAGCA;GCAGCAGCA;GCAGCAGCAGCA;GCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA | delins | 5 | |||
rs533748068 | 0.851 | 0.080 | 1 | 155950962 | missense variant | C/A;T | snv | 4.3E-06 | 7.0E-06 | 5 | |
rs758244932 | 0.827 | 0.120 | 1 | 225828842 | missense variant | C/T | snv | 1.3E-04 | 1.0E-04 | 5 | |
rs760943842 | 0.851 | 0.080 | 1 | 23362976 | missense variant | G/A | snv | 4.0E-05 | 1.4E-05 | 5 | |
rs1060501327 | 0.851 | 0.080 | 1 | 45332251 | missense variant | A/G | snv | 4 | |||
rs12072037 | 0.882 | 0.080 | 1 | 39954534 | upstream gene variant | C/A | snv | 6.1E-02 | 4 | ||
rs12097901 | 0.851 | 0.120 | 1 | 231421509 | missense variant | C/G | snv | 0.10 | 0.15 | 4 | |
rs12740674 | 0.882 | 0.080 | 1 | 68121775 | intron variant | C/T | snv | 0.34 | 4 | ||
rs200100285 | 0.851 | 0.080 | 1 | 11796313 | missense variant | T/C;G | snv | 1.9E-04 | 4 | ||
rs2066826 | 0.851 | 0.160 | 1 | 186676795 | intron variant | C/T | snv | 0.14 | 0.19 | 4 | |
rs677844 | 0.851 | 0.080 | 1 | 12184261 | intron variant | T/C | snv | 0.22 | 4 | ||
rs928508 | 0.851 | 0.080 | 1 | 40757742 | intron variant | G/A;T | snv | 0.50 | 4 | ||
rs114020893 | 0.882 | 0.080 | 1 | 77887920 | non coding transcript exon variant | T/C | snv | 0.50 | 3 | ||
rs1305755801 | 0.882 | 0.080 | 1 | 223802799 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 3 | ||
rs140118273 | 0.882 | 0.080 | 1 | 45329412 | missense variant | G/A;C | snv | 8.4E-03 | 3 | ||
rs1422012687 | 0.882 | 0.080 | 1 | 15524124 | stop gained | C/A;T | snv | 7.2E-06; 7.2E-06 | 3 | ||
rs200479241 | 0.882 | 0.080 | 1 | 186676073 | missense variant | T/C | snv | 2.1E-05 | 3 | ||
rs3131837 | 0.882 | 0.080 | 1 | 100252204 | non coding transcript exon variant | C/G | snv | 0.80 | 3 | ||
rs3219073 | 0.882 | 0.080 | 1 | 226381674 | intron variant | G/C | snv | 0.23 | 3 | ||
rs4839323 | 0.882 | 0.080 | 1 | 113515727 | intron variant | T/C | snv | 0.24 | 3 | ||
rs71658797 | 0.925 | 0.080 | 1 | 77501822 | intron variant | T/A | snv | 7.3E-02 | 3 |