Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1333048 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 24 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 | |
rs796065354 | 0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv | 9 | |||
rs2070762 | 0.925 | 0.080 | 11 | 2165105 | intron variant | A/G | snv | 0.43 | 5 | ||
rs75012854 | 0.882 | 0.200 | 22 | 19962641 | missense variant | A/G | snv | 7.0E-06 | 5 | ||
rs774847933 | 0.882 | 0.200 | 22 | 19962797 | missense variant | A/G | snv | 8.0E-06 | 5 | ||
rs230530 | 0.882 | 0.080 | 4 | 102532823 | intron variant | A/G | snv | 0.37 | 4 | ||
rs1611131 | 0.925 | 0.080 | 9 | 133657065 | splice region variant | A/G | snv | 0.28; 4.0E-06 | 0.25 | 3 | |
rs604300 | 1.000 | 0.080 | 3 | 127724009 | intron variant | A/G | snv | 0.91 | 3 | ||
rs2377339 | 2 | 105840835 | intron variant | A/G | snv | 4.8E-02 | 2 | ||||
rs382140 | 7 | 108141755 | intergenic variant | A/G | snv | 0.74 | 1 | ||||
rs2251214 | 0.827 | 0.040 | 12 | 79430071 | intron variant | A/G;T | snv | 7 | |||
rs324420 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 48 | |
rs2283265 | 0.776 | 0.160 | 11 | 113414814 | intron variant | C/A | snv | 0.16 | 12 | ||
rs764987358 | 1.000 | 0.160 | 8 | 107347040 | missense variant | C/A | snv | 8.0E-06 | 1.4E-05 | 2 | |
rs751416416 | 0.882 | 0.120 | 8 | 53250920 | missense variant | C/A;T | snv | 8.3E-06; 4.1E-06 | 5 | ||
rs3495 | 0.925 | 0.160 | 3 | 165773193 | 3 prime UTR variant | C/A;T | snv | 3 | |||
rs11503014 | 1.000 | 0.080 | 4 | 46388848 | 5 prime UTR variant | C/G | snv | 0.27 | 2 | ||
rs12043259 | 1 | 204858913 | intron variant | C/G | snv | 0.11 | 2 | ||||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs1049353 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 42 | |
rs1803274 | 0.763 | 0.360 | 3 | 165773492 | missense variant | C/T | snv | 0.18 | 0.18 | 13 | |
rs678849 | 0.882 | 0.120 | 1 | 28818676 | intron variant | C/T | snv | 0.44 | 5 |