Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs8679 | 0.790 | 0.200 | 1 | 226360853 | 3 prime UTR variant | A/G | snv | 0.16 | 7 | ||
rs745542298 | 0.807 | 0.080 | 1 | 3732781 | missense variant | G/A;T | snv | 8.6E-06; 4.3E-06 | 2.1E-05 | 6 | |
rs844648 | 0.807 | 0.280 | 1 | 173254724 | regulatory region variant | G/A | snv | 0.46 | 6 | ||
rs140501902 | 0.807 | 0.160 | 1 | 226883774 | missense variant | C/T | snv | 3.6E-03 | 3.4E-03 | 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 | |||
rs638820 | 0.827 | 0.160 | 1 | 109667284 | intron variant | G/A | snv | 0.52 | 5 | ||
rs753535070 | 0.851 | 0.120 | 1 | 155187350 | missense variant | T/C | snv | 8.0E-06 | 5 | ||
rs11552449 | 0.925 | 0.080 | 1 | 113905767 | missense variant | C/G;T | snv | 0.22 | 0.15 | 4 | |
rs1172398253 | 0.925 | 0.080 | 1 | 85582045 | missense variant | C/T | snv | 4.0E-06 | 4 | ||
rs12121543 | 0.851 | 0.240 | 1 | 11794614 | intron variant | C/A | snv | 0.21 | 4 | ||
rs1537514 | 0.882 | 0.120 | 1 | 11788011 | missense variant | G/C | snv | 0.10 | 0.10 | 4 | |
rs2295079 | 0.925 | 0.080 | 1 | 11262508 | 5 prime UTR variant | C/G | snv | 0.54 | 4 | ||
rs35352891 | 0.827 | 0.200 | 1 | 45331729 | missense variant | G/A | snv | 3.8E-04 | 1.1E-04 | 4 | |
rs35749351 | 0.925 | 0.080 | 1 | 40069762 | missense variant | G/A | snv | 5.7E-05 | 4.2E-05 | 4 | |
rs438034 | 0.882 | 0.120 | 1 | 214657274 | stop gained | A/G;T | snv | 0.61 | 4 | ||
rs4889 | 0.882 | 0.160 | 1 | 204190659 | missense variant | G/A;C | snv | 5.2E-06; 0.29 | 4 | ||
rs5780218 | 0.882 | 0.080 | 1 | 204196482 | 5 prime UTR variant | A/- | delins | 0.44 | 4 | ||
rs708111 | 0.882 | 0.120 | 1 | 228003664 | upstream gene variant | G/A | snv | 0.48 | 4 | ||
rs932335 | 0.851 | 0.120 | 1 | 209732389 | intron variant | G/C | snv | 0.21 | 0.21 | 4 | |
rs1061217 | 0.882 | 0.080 | 1 | 160610225 | 3 prime UTR variant | A/C;G | snv | 3 | |||
rs10754339 | 0.882 | 0.120 | 1 | 117147650 | 3 prime UTR variant | G/A | snv | 0.88 | 0.76 | 3 | |
rs10912580 | 0.882 | 0.080 | 1 | 173287411 | intergenic variant | A/G | snv | 0.21 | 3 | ||
rs12998 | 0.882 | 0.080 | 1 | 204192819 | missense variant | C/T | snv | 3.3E-02 | 2.9E-02 | 3 | |
rs13306553 | 0.882 | 0.160 | 1 | 11800060 | non coding transcript exon variant | A/G | snv | 9.9E-02 | 3 |