Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12043259 | 1 | 204858913 | intron variant | C/G | snv | 0.11 | 2 | ||||
rs1212415280 | 6 | 43771130 | missense variant | G/T | snv | 2.1E-05 | 2 | ||||
rs17228602 | 7 | 100890786 | 3 prime UTR variant | C/T | snv | 1.5E-02 | 2 | ||||
rs2377339 | 2 | 105840835 | intron variant | A/G | snv | 4.8E-02 | 2 | ||||
rs1075650 | 9 | 129176634 | 3 prime UTR variant | T/C | snv | 0.25 | 1 | ||||
rs16918875 | 8 | 53229594 | synonymous variant | G/A | snv | 4.3E-02 | 7.1E-02 | 1 | |||
rs1875999 | 5 | 76969157 | 3 prime UTR variant | T/C | snv | 0.38 | 1 | ||||
rs2073837 | 9 | 133657806 | intron variant | G/A | snv | 0.31 | 1 | ||||
rs382140 | 7 | 108141755 | intergenic variant | A/G | snv | 0.74 | 1 | ||||
rs7118900 | 11 | 113396099 | missense variant | G/A | snv | 0.25 | 0.25 | 1 | |||
rs772527880 | 2 | 227531108 | missense variant | G/A | snv | 4.0E-06 | 1 | ||||
rs963549 | 8 | 53229264 | synonymous variant | C/T | snv | 0.17 | 0.24 | 1 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 | |
rs1800497 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 56 | |
rs1049353 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 42 | |
rs324420 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 48 | |
rs1333048 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 24 | ||
rs6277 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 36 | |
rs2023239 | 0.724 | 0.160 | 6 | 88150763 | intron variant | T/C | snv | 0.21 | 20 | ||
rs1611115 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 16 |