Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1035209 | 0.790 | 0.080 | 10 | 99585609 | intergenic variant | C/T | snv | 0.15 | 1 | ||
rs1367374 | 0.790 | 0.080 | 2 | 153074663 | intergenic variant | G/C | snv | 0.19 | 1 | ||
rs16941835 | 0.790 | 0.080 | 16 | 86662114 | intron variant | G/C | snv | 0.20 | 1 | ||
rs2423279 | 0.790 | 0.080 | 20 | 7831703 | downstream gene variant | T/C | snv | 0.29 | 1 | ||
rs6061231 | 0.790 | 0.080 | 20 | 62381861 | downstream gene variant | C/A | snv | 0.28 | 1 | ||
rs6469656 | 0.790 | 0.080 | 8 | 116635549 | regulatory region variant | G/A;C | snv | 1 | |||
rs72647484 | 0.790 | 0.080 | 1 | 22261235 | regulatory region variant | T/C | snv | 6.2E-02 | 1 | ||
rs964293 | 0.790 | 0.080 | 20 | 54200178 | TF binding site variant | C/A;T | snv | 1 | |||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs41395947 | 0.925 | 0.080 | 16 | 16007895 | missense variant | G/C | snv | 2.0E-05 | 7.0E-06 | 2 | |
rs41494447 | 0.925 | 0.080 | 16 | 16007985 | missense variant | C/T | snv | 4.4E-04 | 2.2E-04 | 2 | |
rs748676559 | 0.925 | 0.080 | 17 | 37284932 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 | 3 | |
rs8086 | 0.925 | 0.080 | 4 | 184756267 | 3 prime UTR variant | C/T | snv | 0.24 | 2 | ||
rs3811802 | 0.925 | 0.080 | 4 | 99323064 | intron variant | A/C;G;T | snv | 2 | |||
rs4147536 | 0.925 | 0.080 | 4 | 99317955 | non coding transcript exon variant | A/C | snv | 0.71 | 2 | ||
rs4147542 | 0.882 | 0.160 | 4 | 99347396 | intron variant | T/C | snv | 0.33 | 3 | ||
rs283415 | 0.925 | 0.080 | 4 | 99349450 | intron variant | C/T | snv | 0.64 | 2 | ||
rs266729 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 37 | |||
rs1501299 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 52 | |||
rs12733285 | 0.776 | 0.120 | 1 | 202952912 | intron variant | C/T | snv | 0.26 | 12 | ||
rs1342387 | 0.776 | 0.120 | 1 | 202945228 | intron variant | T/C | snv | 0.53 | 12 | ||
rs4994 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 65 | |
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 | 36 |