Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4946717 | 0.827 | 0.120 | 6 | 106026874 | intron variant | C/A;G;T | snv | 6 | |||
rs3776414 | 0.827 | 0.120 | 5 | 10689450 | intron variant | T/G | snv | 0.48 | 6 | ||
rs2930047 | 0.925 | 0.040 | 5 | 10695414 | intron variant | T/C | snv | 0.49 | 3 | ||
rs878859113 | 0.763 | 0.360 | 6 | 106971734 | missense variant | G/A | snv | 0.35 | 11 | ||
rs4380874 | 1.000 | 0.040 | 7 | 107839870 | intergenic variant | T/A;C;G | snv | 2 | |||
rs11195128 | 1.000 | 0.040 | 10 | 110426390 | downstream gene variant | C/G;T | snv | 2 | |||
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 92 | ||
rs3851228 | 0.925 | 0.040 | 6 | 111526988 | intron variant | A/T | snv | 9.7E-02 | 3 | ||
rs2179070 | 6 | 111564549 | intron variant | T/C;G | snv | 1 | |||||
rs653178 | 0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 | 41 | ||
rs2024092 | 0.827 | 0.120 | 19 | 1124032 | intron variant | G/A | snv | 0.24 | 0.26 | 6 | |
rs529866 | 1.000 | 0.040 | 16 | 11279463 | intron variant | C/T | snv | 0.18 | 2 | ||
rs423674 | 0.925 | 0.120 | 16 | 11279548 | intron variant | G/T | snv | 0.18 | 3 | ||
rs1143634 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 52 | |
rs1143627 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 47 | ||
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 42 | |
rs4848306 | 0.851 | 0.120 | 2 | 112840530 | non coding transcript exon variant | G/A | snv | 0.39 | 6 | ||
rs6689879 | 1 | 113559097 | intron variant | T/C | snv | 0.29 | 1 | ||||
rs1343126 | 1 | 113586470 | intron variant | A/T | snv | 0.25 | 1 | ||||
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs561722 | 1.000 | 0.040 | 11 | 114516108 | upstream gene variant | C/T | snv | 0.35 | 2 | ||
rs7968307 | 12 | 114620647 | upstream gene variant | T/C | snv | 0.33 | 1 | ||||
rs10114470 | 0.882 | 0.080 | 9 | 114785492 | 3 prime UTR variant | T/A;C | snv | 4 | |||
rs3810936 | 0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 | 12 |